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506 Cards in this Set

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What does genetic make-up influence?
Future health and risk of disease.
What is genetics?
Study of heredity - the passing of physical, biochemical, and physiological traits from biological parents to their children.
How can disorders happen?
Mutations that can occur naturally or transmitted from parent to offspring, resulting in disability or death
Describe DNA
Deoxyribonucleic acid

Sugar-phosphate backbone

Bases in the middle (A, G, T, C)

Found in nucleus and mitochondria
What are chromosomes?
Double stranded DNA located in the cell nucleus.
How many chromosomes do we have? How many autosomes and sex chromosomes?
46 Chromosomes

22 pairs of autosomes

1 pair of sex chromosomes (XX, XY)
Which sex chromosome means male? Female?
Male = XY
Female = XX
What is a gamete? What does it do?
Gametes have only one of the chromosome pair (x or y).

Contains individuals genetic information that is passed to offspring.
How many bases are there in human DNA?
6 billion
What is a gene?
Hereditary unit consisting of a sequence of DNA that occupies a specific location on a chromosome and determines a particular characteristics in an organism.
Order of the DNA ________________ is important
bases.
The average gene has how many bases?
3,000
How many genes are there in a human?
20,000 - 30,000
What is mRNA?
A copy of dna made through the process of transcription.
What is translation and transcription?
Transcription = DNA --> RNA

Translation = RNA --> Protein
Where does translation take place?
Ribosomes.
Where are proteins synthesized?
Either on a free ribosome in the cytoplasm or a ribosome on the rough endoplasmic reticulum.
If a protein is synthesized on the RER where does it go?
To the surface (cell membrane) or outside the cell via Golgi apparatus.
If a protein is synthesized in the cytoplasm by a free ribosome, where does it go?
Targeted protein ---> Peroxisome/mitochondria

Or

Cytosolic protein, stays in cytoplasm.
What does rRNA do?
Provides a physical place of translation.
What does tRNA do?
Transfer RNA, carries amino acids to build protein.
What are the differences of DNA and RNA?
RNA = single stranded
RNA has ribose versus deoxyribose
RNA has uracil
RNA can leave the nucleus.
What is a sequence of three bases called? What does it do?
3 bases form a codon. Relate to a single amino acid.

The order of amino acids = protein type.
What is the central dogma theory?
You can determine an organism's physical, biochemical, and physiologic traits.
T/F All somatic cells have a copy of the entire genetic code.
True.
T/F all genes are expressed in all cells at all times.
False.
T/F expressed genes (aka proteins) are not active all the time.
True.
What are the two types of replication?
Mitosis and meiosis
What is the result of mitosis?
Results in two identical daughter cells.

Each cell contains 23 pairs of diploid chromosomes.
What is the result of meiosis?
Results in 4 haploid cells.

Each gamete contains 23 single chromosomes (haploid).

Male and female gametes fuse at fertilization to restore diploid number.
What is crossover? Where/when does it happen?
Crossover happens in meiotic division during metaphase I.

Allows for independent assortment to gametes (genetic diversity).
What is genomics?
Study of the human genome.
What is proteomics?
Study of different proteins produced (100,000 in the human body).
What are applications of genomics?
Health field. Pharmacogenomics and nutrigenomics.
What is a genotype?
A collection of genes.
What does phenotype mean?
What proteins are made determine function/structure.

Expression of genotype.
What is homozygous.
Same allele on both chromosomes
What does heterozygous mean?
Different alleles on both chromosomes.
Dominant/recessive.
Dominant = one allele for expression
Recessive = same alleles for expression
Punnet Square.
Know how to do it.
What does carrier mean?
Dd. Carries the gene, but does not express it.
Define mutation.
Any change in nucleotide sequence in a gene or change in chromosome.
How can mutations happen?
Spontaneously (error occurring during normal dna replication)

Or

Environmental, free radical exposure leads to damaged dna.

Or

Inherited, if the mutation is associated with a gamete it will pass down to the kid.
What does a mutation result in?
Changes in protein, since order of DNA bases determines amino acid order.

Results in ----> normal variation in humans or disease/disorder.
What is ap oint mutation?
Change in base in DNA
Where do chromosome defects happen?
During crossover or anaphase.
Can errors in DNA bases be repaired? If so, how?
Yes.

If DNA is damaged by UV light it can be repaired by photolyase (cleaves thymine dimer) or nucleotide excision repair (cuts out the regain containing thymine dimer).
If an error in DNA base is not repaired, what can happen?
Defective cell may recognize it as damaged and undergo apoptosis or be cleared by immune cells.
Why are some DNA errors not repaired?
Overwhelming/prolonged exposure

Poor health/immune/nutrition status.

Not determined to be detrimental to body.
What are the outcomes of mutation?
May not result in a different DNA sequence (silent mutation, because it resulted in the same amino acid).

May result in difference DNA sequence and therefore different protein.
If the outcome of a mutation is a different protein, what can happen?
1) No change to cell function

2) change in cell function, but not deleterious.

3) Change in cell function is deleterious, can cause cell death or local/systemic impact.
What is penetrance?
Percentage of the individuals genotype who expresses the phenotype.
What is expressivity?
Extent to which a given genotype is expressed at the phenotypic level.
What is incomplete dominance?
One allele for specific trait is not completely dominant over the other allele.

Results in combined phenotype.

Example: Curly + straight hair = wavy hair
Sickle cell anemia.
What is co-dominance?
Both alleles of the gene pair in a heterozygote are fully expressed. Neither one being dominant or recessive to the other.

Example: Blood type.
What does sex-linked mean?
Mutation that occurs on the sex chromosomes (X or Y).
In sex-linked mutations, which chromosomes are most linked to?
X
Are sex-linked mutations usually dominant or recessive?
Recessive.
Who is more likely to be affected by sex-linked mutations?
Males.

Example: Color blindness.

Males are XY and therefore only need one gene to express the gene.
What is mitochondrial gene disorder?
Mutation in mitochondria dna that often results in ATP production problems.
Where does mitochondria gene disorder come from?
Matrilineal inheritance, comes from mom.
How much of the DNA does mitochondria DNA make up?
1% of the total DNA.
What is heteroplasy?
Not all dna in the mitochondria are affected, so manifestations of a disorder don't appear until a certain % of the mtDNA is affected.
What is an example of mitochondria gene disorder?
MELAS (mitochondrial encephalopathy, lactic acidosis, stroke.
How does MELAS happen?
Multiple mutations in mtDNA. 8point and 1 deletion mutation.

Substitute A with G in 80% of cases.
What happens in MELAS?
Result is defective cytochrome oxidase. Impaired oxidative metabolism. Must rely on anaerobic respiration. Decreased production of ATP.
About how much of mtDNA needs to be mutated before symptoms appear?
About 50% of the mtDNA.
If you have MELAS, what age does it usually appear?
10 years old.
Symptoms of MELAS?
hearing loss, blindness, migraines, nausea, short stature.

Hemiplegia (paralysis), cardiomyopathy/myopathy, diabetes.
What is the treatment for MELAS?
Symptomatic (cochlear implants).

Pharmacologic
Reduce seizures (anticonvulsants)
Promote mitochondria energy production (coenzyme Q, riboflavin, creatine).

Experimental: Dichloroacetate to convert pyruvate to acetyl-CoA versus LA.
What is the average lifespan of someone with MELAS?
<45.
What is a chromosomal alteration?
A loss, addition, or rearrangement of chromosome parts (affecting many genes).

Often happens to do nondisjunction.
What is nondisjunction?
Alteration of chromosome number due to failure of chromosomes to separate correctly during cell division.

Unequal number of chromosomes between cells.
What are the three forms of nondisjunction? Describe them.
Monosomy: One copy results in a cell (versus two).

Trisomy: Three copies (versus 2).

Mosaicism: Nondisjunction after conception, not all cells are affected.
How does down syndrome happen?
Trisomy 21. Extra chromosome 21.
Which defects are more lethal? Ones in smaller chromosomes or larger ones.
Larger ones (the ones with smaller numbers).
What is translocation?
Large segment from one chromosome breaks and reattaches to different chromosome during meiosis.
What is a karyotype?
Picture of arranged, paired chromosomes placed in order by size and matched by centromere location plus banding pattern.

Used to look for total numbers and whether chromosome pairs appear to be equal size and banding patterns.
What does polygenic mean?
Interaction of several genes at different loci on different chromosomes that determine phenotype.

Hard to predict outcome.

Examples: Height, weight, skin color, cardiovascular disease, type II diabetes.
What is a multifactorial disorder?
Polygenic PLUS environmental influences determines what gene is expressed.
What does genetic predisposition mean?
Environmental influences effect to what extent a gene is expressed.
What are some environmental influences that can effect genetic predisposition?
Chemicals (alcohol, tobacco, drugs, hromones).

Maternal and paternal age.

Nutrition

Viruses.

Altitude.
When do you usually see multifactorial diseases?
Later in life, hard to predict outcome.
What does epigenetic mean?
Above the genome.
What is epigenetic inheritance?
Consists of chemical compounds that reversibly modify the genome. Tells it what to do, where to do it, when to do it.

Does not change base sequence.

It alters gene expression and can be inherited.
Why is it important to manage genetic and developmental disorders?
1) important to determine so you can have a course of action

2) Prenatal screening for babies.
When is prenatal screening usually done?
Before or during pregnancy.

Done if parents are determined to be high risk
Age > 35
Signs (multiple spontaneous abortions
Medical history of disease.
What tests are usually done during prenatal screening? What are the risks of the screening?
Ultrasound (physical deformities).

Fetal Samples:
Amniocentes (fluid around fetus has DNA from baby).
Chorionic Villus (Take piece of placenta itself).

Maternal blood tests (baby enzymes and products in mom's blood.

Risks include accidental abortion or infection.
What do you get from genetic counseling?
Odds of having an affected child.

Implications of defect (what the defect is, what it does)

Prepare family for future

Other options (abortion or not).
Why is postnatal screening a state mandated test?
Early ID and treatment.
What is genetic screening?
Determine patterns in family history by using a pedigree to track disorders/diseases.
What is BRCA1 and BRCA2
Breast cancer/ovarian cancer.

Guys can get it to.
What is SNP testing?
Looking at thousands of bases across DNA which are known to vary.

These spots indicate risks.
What do future therapies using genetics want to do?
Understand molecular basis of genetic disease.

Diagnose genetic disease

Correct genetic disease.
What is recombinant DNA technology?
Genes from two different sources are combined into a single organism to produce new traits.
What is gene therapy?
Technique for correcting defective genes responsible for disease.
How does gene therapy work?
Direct delivery or carrier molecule called a vector used to deliver therapeutic gene to patient's target cells.

Newly inserted gene functions effectively within cell.
What is the most common vector in gene therapy?
A virus that is genetically altered to carry normal human DNA.
Is gene therapy safe?
Don't know, still experimental.
What are the limitations of gene therapy?
Short-lived nature of gene therapy

Problem with viral vectors (targeting correct cells)

Immune response (how to avoid them taking out vectors and new cells)

Multigene disorders (how do we target them?)
What is stem cell research?
Embryonic cells used to create new cells in the body.

Easily avoid organ rejection.
Why not use embryonic stem cells?
Controversy.
Why not use adult stem cells instead of embryonic?
It is limited, doesn't have as much potential as embryonic stem cells.
What are microsomes?
Microsomes are the sediment left after centrifugation of a cell. Consists of all the cells organelles.
What are some alternative names for the cell membrane?
Plasma membrane
What is the main attribute of the cell membrane?
It's semi-permeable.
Describe the structure of a cell membrane.
1. Phospholipid bilayer
2. Hydrophillic inside the cell and outside, hydrophobic in between.
3. Integral/peripheral proteins.
Which kind of organmism has a cell membrane? Prokaryote or Eukaryotes?
Eukaryotes.
What does eukaryote mean?
Cells containing nuclei.
What are the functions of the proteins embedded in the cell membrane?
1. Cell adhesion molecules (CAMs) - anchor cell to other cells or basal lamina.
2. Pumps - actively transport ions across membrane.
3. Carriers - Transporting substances down electrochemical gradient by facilitated diffusion.
4. Ion channels - permits passage of ions into or out of the cell.
5. Enzymes - Catalyze reactions at the surface of the membrane.
How are peripheral proteins attached to the surface of the membrane?
1. Glycosylphosphatidylinositol anchors (GPI).
2. Lipidated, have specific lipids attached to them.
3. Myristoylated, palmitoylated, or prenaylated.
What does the membrane being fluid mean?
Fluid mosaic model. Proteins can be rearranged depending on the needs of the cell.
What is the main purpose of the mitochondria?
Oxidative phosphorylation (Make ATP)
Apoptosis (Programmed cell death)
Describe the mitochondria
Sausage like shape.

Has outer membrane, intermembrane space, and innermembrane (to create concentration gradient).
The inner membrane of the mitochondria has what, and why?
Cristae - increase surface area for chemical reactions. Aerobic cellular respiration.
What is the mitochondria derived from, who does it come from?
Ovum, mother.
What does a lysosome do, describe it.
Uses ATP to keep environment inside of it acidic (via proton pump H+).

Digests stuff.
What does a peroxisome do?
Contains enzymes that produce H2O2 (oxidases) or break it down (catalase).
What is the cytoskeleton, what does it do?
System of fibers that maintains the structure of the cell, but also permits a change of shape and allows movement.

Made up of microtubules, intermediate filaments, and microfilaments along with proteins that anchor them.
What are microtubules? What do they do?
Long hollow structures made up of alpha and beta tubulin.

Provide tracks along which several different molecular motors move transport vesicles.

Also form the spindle, which moves the chromosomes in mitosis.
What does taxol (paclitaxel) do?
Binds to microtubules and makes them stable so that organelles cannot move.
What is an intermediate filament?
Connect the nuclear membrane to the cell membrane. Form flexible scaffolding for the cell and help resist external pressure.
What are microfilaments?
Made up of actin. Associated with muscle contraction. Present in all types of cells.
What do molecular motors do?
Move proteins, organelles, and other cell parts.
How do molecular motors work?
Convert the energy of ATP into movement.
What is a centrosome?
Centrosomes are microtubule-organizing centers.

When a cell divides, centrosomes duplicate themselves and they move apart.
What do cilia do?
On the surface of many epithelia.

9+2 arrangement

Sensory organelle that receives both mechanical and chemical signals from other cells and the environment.
What are CAMs?
Cell adhesion molecules. Fasten cells to neighbors, basal lamina, and transmit signals into and out of the cell.
What are the intercellular connections? What do they do?
Tight junctions (zonula occludens) - Tie cells together and endow tissue with strength and stability.

Desmosomes and zonula adherens attach cells to their basal lamina.

Gap junctions form a cytoplasmic tunnel for diffusion of small molecules between neighboring cells.
What is the nucleus made up of?
Mostly chromosomes. The structure that carries the complete blueprint for all heritable species and individual characteristics of the animal.
What is the nucleolus?
Patchwork of granules rich in RNA.
What does rough (granular) endoplasmic reticulum do?
Attached to cytoplasmic side of the membrane.

Concerned with protein synthesis and initial folding of polypeptide chains with the formation of disulfide bonds.
What does smooth (agranular) endoplasmic reticulum do?
Ribosomes absent.

Site of steroid synthesis in steroid-secreting cells and the site of detoxification in other cells.
What do ribosomes do?
Site of protein synthesis.
What does the Golgi apparatus do, what does it look like?
Collection of membrane enclosed sacs that are stacked like dinner plates.

Shipping place.
What is apoptosis?
Programmed cell death or cell suicide.
What does physio mean?
Nature/function
what does -logy mean?
Study of
What is the definition of physiology?
Chemical and physical processes that work together to enable the patient to live.
What does ana mean?
up/again
What does -tomy mean?
To cut
What does anatomy mean?
Structure of the body.
What is the definition of pathophysiology?
Study of functional changes that occur as a result of injury, disorder, or disease.

Abnormal function.
Why is health and illness difficult to define?
Perception of health
different from person to person (age)
always changing
Physical PLUS _________________________ well being.
Mental, social, intellectual, spiritual.
What is the definition of homeostasis?
Dynamic steady state in response to stress.
What is stress and where can it come from?
Any event or condition that disrupts homeostasis.

- Outside world
- Extracellular fluid (outside cell)
- Intracellular fluid (inside cell)
What does dynamic steady state refer to?
Individuals normal range in which a physiological variable is maintained.
What is the normal temperature range of a human?
97-100
What is an individual set point and is everyones the same?
Individual set point is the normal range for that particular person. Everyone has a different set point.
What were Hippocrates belief on health?
Four humors.

- Bloody
- Phlegm
- Black Bile
- Yellow Bile
How did Galen expand on this?
Treatment of opposites to restore balance.
What happens if a stressor is applied to the human body?
Internal change results in loss of homeostasis, organism attempts to compensate.
What is compensation in homeostasis fails? Succeeds?
If it fails you develop illness or disease.

If it succeeds, you get better (duh!).
How does homeostasis work?
Stimulus-response sequence.
Explain the stimulus-response sequence.
Sensor ---> Integrating center ---> Effector (carries out response)
What is negative feedback?
Change in the variable results in responses that move the variable in the opposite direction of the change.
What is the goal of negative feedback?
To bring the body back to normal?
Give an example of negative feedback?
Body temperature.
What is positive feedback?
Changes in regulated variable results in further change in the variable in the same direction.
When does positive feedback loop stop?
When the stressor is removed.
What is the goal of positive feedback?
To reinforce the stimulus.
What is an example of positive feedback?
Childbirth, oxytocin. Stops when fetus is delivered.
What is feedforward control?
Responds before the stressor is applied.
How does feedforward control work?
Initiates response in anticipation of change in regulated variables.
What is the goal of feedforward control?
Improve speed of homeostatic response and minimize change from set point.
What are examples of feedforward control?
Salivating, stomach grumbling.
What does relative steady state mean?
It means inputs and outputs are balanced.,
Describe the difference between homeostasis and equilibrium
Homeostasis provides an environment that is most beneficial for life.

Equilibrium means the same.
Why are there multiple systems that control a single variable?
More efficient and minimize change.

If one system is not working, other system can compensate.
What is acclimatization?
Body improves its ability to respond to environmental stress.
How is acclimatization induced? What is the result?
Induced by prolonged exposure to stressor.

Results in increase in number, size, or sensitivity of cells.
What is an example of acclimatization?
Heat,

Heat --> Sweat --> More sweat over time.
What happens if you have prolonged exposure to stressor (you've already been acclimated for a period of time)?
Individual set point may be reset.

I.e. Blood pressure.
What are biological rhythms?
Regulated physiological variables that have repeating rhythms.
What is an example of biological rhythms? What is it an example of?
The sun. Feedforward homeostasis.
T/F Are all body processes equally maintained?
No, there is a hierarchy to preserve life.

i.e. frostbite.
What is the definition of a cell?
Simplest / smallest unit of a structure into which a complex organism can be divided and still be capable of carrying out all life processes.
What are all living things made of?
Cells.
What is a eukaryote? Prokaryote?
Eukaryote = true nucleus, has organelles (us!)

Prokaryotic = No organelles, bacteria
What is the chemical composition of carbohydrates?
CH2O

Glucose = C6H12O6
What is the function of glucose?
Catabolized to primary energy source of the body. ATP.
How is energy stored in animals?
Glycogen (muscles + liver).
How is energy stored in plants?
Starch.
What is the Structure of Lipid?
CH and little o
What do lipids do?
Structural. Used in cell membranes (phospholipid bilayer)

Functional. Fat for energy storage, insulation of nerves, hormones, protection, warmth.
What are nucleic acids used for?
Structure. Helix of sugar-phosphate backbone, plus bases. (in DNA/RNA).

Function. Transcription and translation of genetic information into protein.
Where are nucleic acids found?
Nucleus and mitochondria.
Proteins are polymers of...._____________
amino acids.
What are proteins used for?
Structural. Collagen, muscle, integral membrane, proteins, cell receptions, ion channels.

Functional. Enzymes, hormones.
What do enzymes do?
Catalyze every metabolic transformation in the body.

Controls production and activity.
What are the three primary regions of the cell?
- Nucleus
- Plasma Membrane
- Cytoplasm
What are the advantages of a compartmentalized cell?
Efficiency, isolate functions.

i.e. Lysosomes have digestive enzymes that need to be contained.
Describe the plasma membrane of a eukaryotic cell.
Lipid bilayer
Amphipathic
Fluid mosaic model
Proteins, receptors, channels embedded in it (integral and peripheral proteins).
Which sides of the plasma membrane are hydrophilic? Hydrophobic?
Hydrophilic interior and exterior.

Hydrophobic in between.
What is the function of the plasma membrane?
Contains organelles.
Semi-permeable (allows certain things to enter and leave).
Defines shape and size of the cell.
Surface of cell can interact with environment.
What is passive transport?
Transport across membrane without energy.

From high --> low concentration
When does passive transport stop?
When equilibrium is achieved.
What kind of items can pass through the plasma membrane?
Small, hydrophobic, nonpolar (uncharged) molecules.
What is osmosis?
Diffusion of a solvent (water) across a semipermeable membrane.

From High H2O --> low H2O until at equilibrium.
What happens to RBC in a hypotonic solution?
Lyse.
What happens to RBC in an isotonic solution.
Water moves in and out at the same rate.
What happens to RBC in an hypertonic solution?
Cell shrivels (crenate, flaccid).
What does amphipathic mean?
Both hydrophilic and hydrophobic attributes.
What is facilitated transport?
Like passive transport. High conc --> Low conc.

Requires a carrier (integral protein) in the plasma membrane to get across.

Example: Glucose uptake.

Requires no energy.
What is active transport?
Moves particles against the concentration gradient.

Low --> high.

Requires ATP ****

Includes cotransport/symport and countertransport/antitransport.
What is an example of active transport?
Na/K pump.
What is endocytosis?
Transport of fluids or other materials INTO the cytoplasm through the formation of the membranous vesicle.
What are examples of endocytosis?
Phagocytosis (cell eating)

Pinocytosis (cell drinking).
What is exocytosis?
Secretion. Transport of fluids or other materials out of the cytoplasm by fusion of a vesicle with the cell membrane.
What is transcytosis?
Endocytosis and exocytosis.

Example: Transferring something through the cell.
Large intestine/small intestine.
What is the cytoplasm?
All area outside the nucleus.
What does the cytoplasm include?
Organelles and cytosol.
What is the function of cytoplasm?
Glycolysis and ribosomal protein production.

Storage of fat, glycogen, and secretory vesicles.
What is intracellular fluid (ICF)?
Any fluid within the cell.
What does intracellular fluid contain?
Cytosol and fluid within organelles, including nucleus.
What is extracellular fluid?
Fluid outside of the cell.
What is interstitial fluid?
Between cells.
Where do you find plasma?
Blood vessels.
What is 60 percent of your body weight?
Interstitial fluid and plasma.
What is 40 percent of your body weight?
Intracellular fluid. Inside cell, nucleus, organelles.
What is the function of the nucleus?
Storage and transmission of genetic information (DNA)
How is DNA expressed?
Via proteins, transmitting to offspring.
What are the functions common to each cell? (6 of them).
1) Exchange material and information with the surrounding environment.

2) Obtain energy from organic nutrients.

3) Synthesize complex molecules.

4) Communication: signals within and between cells that control cellular function and behavior.

5) Duplicate itself.

6) perform specialized activities.
When cell specializes, it is known as ________________.
Differentiation.
What are the types of differentiation of a cell?
1) Muscle (cardiac, skeletal, smooth)

2) Nerve

3) Epithelial (skin)

4) Connective (tendons, cartilage)
T/F Largest organelle in the cell is the nucleus
True
Do all human cells have a nucleus?
No, most do though. Red blood cells are the exception.
What are nuclear pores? What does it do?
Holes in the membrane.

Allows proteins in that control DNA and expression of genes.

Allow RNA out --> Protein translation.
What does the nucleus do?
Cell's control center.
Where can you find chromatin?
Inside the nucleus.
What is chromatin and what does it do?
Threads of DNA associated with protein.

Where genetic information is stored.
Condenses to become visible chromosome during cell division.
What are two types of cell division.
Mitosis
Meiosis
What is mitosis?
Used for growth and repair.

1 Cell --> 2 IDENTICAL cells.
What is meiosis?
Reproduction.

1 Cell --> 4 DIFFERENT cells.

Seen in reproductive cells (sperm)
What is stress? What are the causes of cellular stress?
Any event or condition that disrupts homeostasis

1) Deficiency
2) Intoxication
3) Trauma
What do cells try to do in response to stress?
Adapt or be injured/die.
What is a deficiency?
A lack of substance necessary to cell function.
Why does an infection cause deficiency?
Infectious agents utilizes needed nutrients, causing a deficiency state.
How do genetic diseases cause deficiency?
1) Impaired metabolite regulation (can't utilize resources)

2) Impaired metabolite synthesis (can't make resources).

Causes a deficiency state
What is primary nutrient deficiency?
Your diet, leads to deficiency.
What is secondary nutrient deficiency?
Can't absorb your nutrients, leads to deficiency.
How does blood flow cause a deficiency?
Nutrients can't be delivered to areas in need, leading to deficiency.
What is the definition of intoxication?
Presence of a substance that interferes with cell function.
How can a genetic defect cause intoxication? What are some examples?
Defective enzyme leads to:

1) Accumulation of normal metabolite leads to toxin production and injury.
2) Activation of alternate pathway leading to toxin production and injury.

Examples: Tay-sachs, lysosome storage disease
How can impaired circulation cause intoxication? Example?
Accumulation of normal metabolite, leads to toxin production and injury.

Example: Impaired circulation causes accumulation of normal metabolite (lactic acid).
What are some ways you can get intoxication?
1) Microbial toxins
2) Ingest toxins
3) Genetic defect
4) Impaired circulation
What is the definition of trauma?
Loss of the cell's structural integrity (physical injury)
What are the causes of HypERtherma? (3 of them)
1) Direct contact (cut or blow)
2) Solar radiation (sun)
3) Electric current

All of these lead to trauma.
What are the 9 possible causes of trauma?
1) Direct contact --> hyperthermia --> trauma
2) Solar radiation --> Hyperthermia --> trauma
3) Electric current --> hyperthermia--> trauma
4) Hypothermia (frostbite) --> trauma
5) Pressure (Blood vessel) --> trauma
6) Immune defect (autoimmune) --> trauma
7) Ionizing radiation (x-ray, MRI) --> trauma
8) Infection (microbes --> trauma
9) Oxygen reactive species
What is reactive oxygen species?
Reactive molecules and free radicals derived from molecular oxygen.
How do reactive oxygen species form?
Results from aerobic metabolism and activity of WBC, as well as exposure to pollutants and UV radiation.
Why are reactive oxygen species reactive?
Because they have an unpaired electron and try to stabilize themselves by stealing electrons from other molecules.
Why are reactive oxygen species dangerous?
Can cause damage to cell membrane, protein, and DNA!
What does autocatalysis mean? What does it have to do with reactive oxygen species?
Free radicals that make more free radicals!
What are the six examples of reactive oxygen species?
1) Oxygen O2
2) Superoxide anion O2 (one negative charge)
3) Peroxide O2 (two negative charge)
4) Hydrogen peroxide H2O2
5) Hydroxyl radical OH
6) Hydroxyl ion OH (one negative charge)
What are reactive oxygen species implicated in?
Cardiovascular disease, CVD, and aging.
How are reactive oxygen species removed? Examples? How do they work?
by antioxidants. Vitamin C & E.

They are electron donors.
How is the level of oxidative stress determined?
By a balance between oxidative damage and rate at which reactive oxygen species are removed and damage is repaired.
How do peroxisomes get rid of free radicals?
By the use of catalase, neutralizes H2O2 (a reactive oxygen species).
Refer to chart about cell response to stressor!
Why haven't you opened your binder yet?
What is hypertrophy?
Increase in the size of individual cells WITHOUT an actual increase in their numbers.
What does trophy mean?
Nutrient development.
What does hyper mean?
High
What is hypertrophy in response to?
Increase tropic signals (puberty)
Increased demand (i.e. lift weights, muscle buildup).
What is atrophy?
Decrease in the size of cells. Happens via loss (breakdown) of protein)
a- means? (in atrophy)
Without
What is atrophy in response to?
Disuse (broken arm)
Decreased stimulation (nerve damage)
Decreased nutrient supply (ischemia which is blood flow).
What is hyperplasia?
Increase in the size of tissue or organ WITH an actual increase in cell number.
What does plasia mean?
Growth formation.
What is hyperplasia in response to?
Increased demand
Compensation for damage or disease elsewhere
Chronic inflammatory response
Hormonal dysfunction (hyperthyroidism)
Is hyperplasia reversible?
Sometimes reversible, but if it gets too far it may need surgical removal.
What is metaplasia?
Change of one cell type to another.
Why does metaplasia happen?
Original cells are not robust enough to withstand new environment --> New cell type more suited to new environment.
Can cells that undergo metaplasia return to normal?
yes.
What is an example of metaplasia?
Barrets esophagus, acid reflux.
Is metaplasia continues, what can it progress to?
Dysplasia, then cancer if left untrated.
What is dysplasia?
Development and maturation of cells is disturbed and abnormal.
How does dysplasia happen?
Often result of chronic irritation or infection.
What do cells that undergo dysplasia look like?
Cells vary in size, have abnormal relationship, large nuclei are frequently present, and the rate of mitosis is increased.
What does dys mean? in dysplasia?
Painful/bad
What is cell metabolism?
Changes in metabolic pathways, enzyme numbers/ activity, and organelle numbers/activity.
How do changes in cell metabolism happen (examples)?
1) Alcoholism --> Increased cytochrome P450 (detoxifying enzyme).
2) Hypoxic environment --> Anaerobic metabolism
3) Severe dieting --> Shift to fat for energy (and protein).
4) Extensive training --> More mitochondria.
Why are adaptive responses to stressor difficult to pinpoint?
Because observable changes in strcture or function is usually gradual and occurs over time.
What does cell response effect rely on?
1) Causative agent
2) Intensity/duration of exposure
3) Number of exposure.
______________ have high metabolism rate and depend on glucose as their only energy source.
Brain cells.
Which cells are more vulnerable to damage than others?
1) Brain cells
2) areas with rapid mitosis are more sensitive to DNA damage (cancer treatment)
3) Liver/kidney
When cells are damaged, what are the six possible outcomes?
1) Cell swelling (Hydropic change)
2) Fat accumulation (impairment of enzymes that metabolize fat).
3) Hyaline change (structure within or between cells resulting from protein loss
4) Autophagy
5) Residual bodies (remnants of lysosomes whose contents are not completely digested or secreted out of cell.
6) Cell death
What is apoptosis?
Programmed cell death, cellular suicide, or planned cell death.
Does apoptosis cause inflammation and damage to other cells?
No, it is orderly and no inflammation/damage to adjacent cells.
What is necrosis?
Unplanned structural changes as cell breaks down
Look at the steps of apoptosis and necrosis!!!
Open that binder!
After depletion of oxygen, how long till brain cells are damaged? Heart cells?
3-4 minutes for brain
20-30min for heart.
How can you determine and monitor cell injury?
1) Functional loss
2) Release of cell constituents
3) Electrical activity
4) Biopsy
What are the types of electrical activity monitoring?
EMG = muscle
ECG/EKG = heart
EEG = brain
How can functional loss determine/monitor cell injury?
Look at increase/decrease of abnormal products of metabolism associated with specific cells.

example: Billirubinemia (jaundice --> liver) or gallbladder/RBC lyse.

example: Decrease in O2 --> RBC/Blood flow/lung problem
How can release of cell constituents determine/monitor cell injury?
Normally specific enzymes are kept intracellular. If they leak into places they aren't supposed to be then it is can help determine cell injury.

Example: CPK creaotine phosphate kinase (heart damage indicator, muscle damage indicator)

Example: Acid phosphatase (prostate --> cancer)
What are the three lines of defense we have?
1) Skin and mucous membranes
2) Inflammatory response
3) Immune response
What does the integumentary system consist of?
Hair, Nails, Exocrine glands, skin
What are exocrine glands? Give some examples.
Ducts, secretion to outside.

Sweat glands, sebaceous (oil), and lacrimal (tear).
What is the largest organ in the body? How much does it weigh and what is the surface area (average)
The skin

10lbs
20 square feet
How thick is our skin?
A few millimeters thick
How many layers does our skin have? What are they?
Two distinct layers.

1) Epidermis
2) Dermis
Which layers of the skin are considered the dead layer? Living layer? Why?
Epidermis is considered the dead layer

Dermis is considered the living layer.

Epidermis is avascular (no blood vessels), so its dead.
Describe the epidermis.
Avascular layer (no BV).

90% keratinocytes (tough protein)
Melanocytes (pigment)
Langerhans cells (immune function)
Merkel cells (sensory function)
Describe the dermis
Layer of connective tissue containing blood vessels, neural tissue, and origins of skin structures.
How is our epidermis replaced?
Dermis moves up to replace the epidermis.
What are the roles skin plays?
1) Sensory reception
2) Regulation of body temperature
3) Water balance
4) Synthesis of vitamins and hormones (vitamin D)
5) Absorption of materials (transdermal drugs)
6) Protection
Why is our skin salty?

Pliable?
To prevent microbial growth

To prevent tears.
What is the mucous membrane? Give some examples.
Membrane lining cavities and canals that lead to the outside.

Respiratory, digestive, urinary, and reproductive tracts.
What are mucous membranes made up?
Epithelial, muscle, and connective tissue.
Can mucous membrane eventually lead to skin? If so, examples?
Yes.

At the nostrils, mouth, lips, eyelids, ears, genital area, and anus.
What is the sticky, thick fluid secreted by mucous membranes called?
Mucus.
What are the roles of the mucous membrane?
Lubrication/hydration, absorption, secretion, and protection.
How does skin and mucous membrane play a role in our defense?
Physical, chemical, and enzymatic barrier to the outside.

Example:
Acidic environment in stomach (protects rest of body from acid)
Salty skin (antimicrobial).
What happens if our skin has a tear?
Second line of defense (inflammatory response).
List the three lines of defense we have, from general to specific.
Skin/mucous membrane (general)
Inflammatory response
Immune response (specific)
Is inflammatory response specific or non specific? What does this mean?
Non-specific

Means that inflammatory response is identical regardless of what breaches the first line of defense.
How is inflammation triggered? Examples?
By injury.

Damage, harm, or loss to cell, tissue, organ, or organ system.

Causes: Microbes, Hypoxia (low oxygen), physical or chemical damage.
What does the suffix -itis mean?
Inflammation
What does hypoxia mean?
Low oxygen
What happens when you get acute inflammation?
Hyperemia (increased blood flow to injured area)
Vascular response.
What does inflammation do?
Increased blood flow to injured areas brings immune cells to site (cellular response).

To:
Contain or remove injurious agents
Prepare tissue for repair
Is acute inflammation a normal response to cell injury?
Yes.
After receiving an injury, what happens before inflammation? Why? What happens after?
Vasoconstriction, to stop blood loss.

After vasoconstriction we do inflammation (hyperemia).
How are our blood vessels dilated after receiving an injury? Examples?
By chemical mediators.

Mast cells and basophils release granules that have histamines (vasodilate) and heparin (anticoagulant)
What do histamines do?
Vasodilate
What does heparin do?
Anticoagulant.
What is the vascular response?
The vasoconstriction to prevent blood loss

then

Vasodilation and anticoagulation.
What do injured cell plasma membranes release during the vascular response?
Phospholipids and fatty acids that are converted into arachidonic acid.
How are injuries repaired (cuts, tears, breaks in the skin).
By the clotting system (minimize blood loss).
What does the liver do in the vascular response?
Makes inactive forms of enzymes that are used in:

1) Clotting system
2) Kinin System
3) Complement System.
What is the kinin system? Why do we need it?
Stimulates pain receptors, increase capillary permeability, and amplify inflammatory response.

During the vascular response, we need this so that we don't agitate the injury any further.
What is the complement system? Why do we need it?
Vasodilation, chemotaxis, and phagocytosis.

To get rid of foreign stuff.
Why have so many systems of chemical mediators?
Control
What is inflammation caused by?
Release of chemical mediators.
What are the steps of the vascular response?
1) Vasoconstriction, clotting, stop bleeding
2) Chemical mediators bind to receptors on endothelial cells, vasodilation, increase blood flow (inflammation).
3) Promote capillary permeability, more fluid to area to dilute and carry off harmful substances
4) Promote cellular response.
What happens after the inflammatory response?
The cellular response.
What does the cellular response include?
Chemotaxis
Cellular adherence
Cellular migration
What is chemotaxis?
Chemotactic factors attract specific types of cells to site of the injury.
What is cellular adherence?
Receptors on endothelial cells bind to phagocytic cells.
What is cellular migration?
Ability of cells to get to exact site of injury due to vasodilation and increased capillary permeability.
What cells are involved in the cellular response?
Neutrophils
Monocytes
Platelets
Red blood cell
What do the neutrophils do during the cellular response?
1st responders, phagocytize
What do monocytes do during the cellular response?
Immature macrophages in blood, become macrophages in tissue.
What do platelets do during the cellular response?
Release chemical mediators (promote inflammation)

Cause coagulation, stop bleeding, trap harmful substances, form structural origins of repair.
What do red blood cells do during the cellular response?
Oxygenate tissue.
What are the signs of inflammation?
1) Redness
2) Heat
3) Incapacitation (loss of function due to swelling)
4) Pain
5) Exudate and Edema (extracellular fluid accumulation).
What is pus?
Dead and dying neutrophils

Necrotic tissue and tissue debris

Water and solutes
What are the systemic signs of a problem?
1) Pyrexia (fever)
2) Leukocytosis (WBC diff: elevated neutrophils, lymphocytes, and eosinophils.
3) Increased % plasma proteins
4) Fatigue
5) Weight loss
6) Headache
7) Lethargy
8) Lymphadenitis (inflamed lymph nodes
What is the treatment for inflammation?
PRICE

Protection
Rest
Ice
Compression
Elevation
What are the common drugs to treat inflammation?
Aspirin, NSAIDs (non-steroidal anti-inflammatory drugs), glucocorticoids.
What does it mean by inflammation is self limiting?
Will resolve itself once offending agent is removed/destroyed, no longer release of chemical mediators.
When do you treat inflammation?
Interferes with ADL (daily living)

If it gets out of control (can cut off blood flow).
What is chronic inflammation defined as?
Recurrent or persistent inflammation lasting 6 months or longer.
What does chronic inflammation mean?
Could be an underlying cause.

Also may develop insidiously due to chronic irritation, bacterial infection, or abnormal immune response.
Where do macrophages originate from?
Monocytes
Look at Pathology flow chart 1-4!
Look at Pathology Flow Chart 1-4!
What are the signs and symptoms of chronic inflammation?
1) Symptoms come and go
(similar to signs of inflammation)

2) Fever
3) Malaise
4) Anemia
5) Fatigue
6) Anorexia
7) Weight loss
8) Weakness
What does chronic inflammation lead to?
More tissue damage, and decreased function of the effected organ.
What are the goals for treating chronic inflammation?
Remove source of injury, or slow injury
Manage Rx to promote activities of daily living.
How do you treat chronic inflammation?
Pharmacologic (anti-inflammatory, analgesic (reduce pain), antimicrobials, immune-modifying drugs)

Non-pharmacologic (heat/cold, immobilization/rest, diet, exercise/PT, CAM (alternative medication))
Resolution to chronic inflammation?
Chronic....means it never really goes away.
What are the three phases of healing?
Inflammatory Phase
Proliferative Phase
Remodeling phase.
What happens during the inflammatory phase?
Acute inflammatory response
Cover the wound
What happens during the proliferative phase?
Clean the debris
Restore structural integrity (scar)
What happens during the remodeling phase?
Restore functional integrity
Remodeling (maturation of cells)
What do fibroblasts do?
Replace connective tissue layer

By secreting collagen to fill in gaps left after removal of damaged tissue.
Where do fibroblasts come from?
Stimulated by cytokines and released by WBC and platelets.

VEGF Vascular endothelial growth factor.
What is scarring?
Excess collagen. Scarring replaces about 90% of the original tissue.
Is the scar identical in functionality and aesthetics?
No, usually not identical and inferior to functional quality.
What factors affect healing?
Type of wound (surgical or jagged gash)
Immune/health status
Ischemia (low blood flow, means low O2)
Nutritional status
age
stress
smoking
medications
wound care management (clean, treat, protect)
What is the goal of the immune response?
Recognize and neutralize foreign substances.
What are the four steps of the immune response?
Recognize
React
Remember
Self-tolerance
Is the immune response specific or non-specific?
Specific.
What are the immune cells?
Leukocytes (white blood cells)
Where do immune cells come from?
Immune cells (WBC) come from bone marrow.
What does hematopoiesis mean?
Production of blood cells. RBC and RBC. Where immune cells come from.
What are the two classes of immune cells?
Myeloid
Lymphoid
What are some of the myeloid immune cells?
Monocytes, dendritic cells, neutrophils, eosinophils, basophils, and mast cells.
What are some of the lymphoid immune cells?
Lymphocytes (natural killer cells, T and B lymphocytes).
Where do myeloid immune cells mature and circulate?
Mature in bone marrow and circulate in the blood.
Where do lymphoid organs circulate?
In the lymphatic system.
What do neutrophils do?
1st response, phagocytize.
What do monocytes do?
Tissue macrophages (also phagocytize), but found in the tissue.
What do basophils do?
Work with mast cells to release histamine and heparin
What do histamines do?
Vasodilate
What does heparin do?
Anticoagulant.
What do eosinophils do?
Elevated in parasite infections; release cytotoxic granules
What do lymphocytes do?
** specific immune response.
What does the lymphatic system consist of?
Lymph vessels, tissues, and nodes
What does the lymphatic system do?
Stores lymphocytes (for specific immune response), filter lymph and capture foreign cells and materials.
Where does lymph fluid come from? Where does it go? Why?
Taken up from ECF from tissues, returned to blood, and circulates the lymphocytes.
What organs are involved in the lymphatic system?
Bone marrow, thympus, spleen. (WBC produced and mature).

Lymph vessels, tissues, and nodes

Lymph Fluid
What does innate immunity mean?
Born with it, inborn.

Natural nonspecific first response.
What does innate immunity include?
Skin and mucous membranes
Inflammatory process (phagocytosis by neutrophils and macrophages).

Non specific cell destruction by natural killer cells.
What is the goal of innate immunity?
Prevent microbe entry, growth, and spread.
What is the specific immune response stimulated by?
Dendritic cells.

Done by recognizing foreign molecules or substances via presence of antigens.
How are foreign cells, molecules, or substances recognized?
Via an antigen. helps identify self from non-self
What is the definition of a foreign cell, molecule, or substance?
Molecule associated with being foreign to body (non-self) that induces a state of sensitivity.
What are exogenous sources?
Virus coats, cell walls, capsules, flagella, toxins, allergens.
What are endogenous sources?
Altered native or exogenous proteins that undergoes mutation; or protein shape or sequence changed inside body.
What is the process of receiving an antigen for a specific immune response?
Dendritic cell eats bacteria
Antigen goes to surface
Presents the antigen to helper T-cells
What is adaptive immunity?
Specific immune response, targeted to a specific antigen.
Is adaptive immunity slower or faster, stronger or weaker?
Slower, but generally stronger
When does adaptive immunity occur?
Over a lifetime, its learned and adapts to your current environment.
Describe the primary response of adaptive immunity.
1) Activation occurs with first recognition of a specific antigen.

Involves rearrangement of genes in lymphocytes to make a specific protein that can bind to unique shape of specific antigen to immobilize and destroy.
What happens to most lymphocytes after antigen is eliminated?
Apoptosis, some remain for memory purposes.
Describe the secondary response of adaptive immunity.
Reactivation of adaptive immune response with later recognition of the same antigen.

Result is quicker, stronger, and specific immune response.

Concept behind vaccinations.
Why would we not keep all lymphocytes at high levels, so they can react immediately?
Waste of energy and resources

Autoimmune danger (avoid self destruction)
Where do B lymphocytes (plasma cells) mature?
Bone marrow
What do B lymphocytes (plasma cells) do?
Produce antibodies that bind to specific antigens.
What do antibodies do?
Inactivates foreign cell or substance

Marks for destruction

Also called immunoglobulins (lg).
What are antibodies actions called?
Humoral response.
Where do T lymphocytes mature?
Thymus
What are the types of T lymphocytes?
Cytotoxic (CD8)
Helpder (CD4)
Supressor
What do cytotoxic (CD8) cells do?
Detect and destroy pathogens INSIDE cells, because they can't be bound by antibodies. (also destroy cancerous cells).
What do Helper (CD4) cells do?
Activate and promote specific immune response.

These are targeted by AIDS virus.
What does CD mean?
Cluster of differentiation = membrane surface molecules which contribute to specificity of function and response.
What are the roles of the suppressor T cells?
Suppressor T cells keep immune system in check.
What are the actions of T Lymphocytes called?
Cell mediated response.
Refer to diagram 1-5
Refer to diagram 1-5.
What is active immunity?
Stimulated immune response.

Natural: develop antibodies in response to antigen

Artificial: vaccination with antigen
What is passive immunity?
No stimulation

Natural: Receive immunoglobulin (antibodies) through placenta/milk

Artificial: Transfusion or injection with high concentrations of immunoglobulins (antibodies) or antitoxin (tetanus vaccine)
What is primary host defense failure?
Or immunodeficiency.

Primary: Can be born with it, seen after 6-8 months of life.

You would use antibody therapy instead of vaccines because they don't have the means to memorize/make antibody.
What is secondary host defense failure?
Or immunodeficiency.

Secondary: Acquired, influenced by age, stress, diet.

Viral latency: Period of inactivity (re-emerge later) i.e. herpes.

Antigenic variation: Pathogens seen as "new" by immune response. (Parasite changes antigen coat, so it looks new, but isn't.
What is an example of secondary host defense failure (immunodeficiency)?
AIDS
What does hypersensitivity mean? Examples? Side effects?
Over immune response

Allergens (can lessen over time through repeat exposure)

Examples: Peanuts, pollen, bee string.

Itching, irritation, or difficulty breathing (asthma or anaphylaxis).
Why would you test for hypersensitivity?
To avoid it...duh. (allergies)
What is autoimmunity? Example?
Failure to distinguish self from non-self

NOT TO BE CONFUSED WITH recognition of self as foreign.

Example: Rheumatoid arthritis
How does autoimmune happen?
Overactive or prolonged response to infection. Can lead to damage to specific organs or the entire body.
What does alloimmunity mean?
Immune response to foreign antigens (alloantigens) from same species.
What is major histocompatibility complexes?
or MHC.

On human cell surfaces there are compounds that mark our own specific cells (how we recognize self).
How does alloimmunity occur?
Transfusions, grafts, or transplants.
How do we decrease chances of alloimmunity?
Immunosupressants, match donor with recipient (blood type, etc), relatives.
Cancer is the _______ leading cause of death in the U.S.
2nd
Cancer effects how many men and women?
1/2 men
1/3 women
What are the top cancers?
Lung prostate breast colon
Can all cancer be cured?
No
How are generation of new daughter cells happen?
Mitosis
What does mitosis do?
Creates 2 identical cells for growth and repair / replacement

i.e. lose dry skin cells or hemorrhage occurs.
What is differentiation
Cells become more specialized.
What is altered cell proliferation and differentiation?
Cancer
What does neoplasm mean?
A new growth development.
What does a neoplasm do?
Ignores genetic controls resulting in tumors.
What does autonomy mean?
Excessive cellular proliferation.
What does anaplasia mean?
Loss of cellular differentiation.
What cells are most likely to have a neoplasm?
Cells that proliferate rapidly, especially blood and epithelial cells.

Results in cancer: overgrowth of cells with no useful function.
How does a malignant tumor start?
From a single cell that has damage to its genome.

Via unrepaired error in DNA replication or chromosomal abnormalities.
Where are defects usually found (cancer causing defects)?
Genes controlling the cell cycle, growth, repair, or death.
What does a mutation cause, in regards to cancer?
A mutation causes the cell to proliferate abnormally.

If unchecked it could eventually develop into a tumor of unique cells.
Takes about _____ cell division cycles before you can see a tumor.
30, about grape size.

2^30 means there are more then 1 billion cancer cells
How does the body normally deal with DNA defects?
Via repair mechanisms (photylase or excision)

Or

Recognition and removal of defective cells from the body by apoptosis or immune system
Is there a strong hereditary link to most malignant tumors? What percentage of malignant tumors are hereditary?
No. 5%
If a malignant tumor is inherited, when does it usually show up? (young or old)
young.
Hereditary tumors usually deal with genetic predisposition for cancer. What does this mean?
Means you are highly susceptible to get tumors.
The inheritance pattern of tumors is __________________. Which means the individual has inherited a set of genes that influence susceptibility.
Multifactorial inheritance.
There are _____ groups of genes that play an important role in regulating cell function.
3.

Mutations of these genes are associated with the formation of most tumors.
What is the definition of a mutation?
Any change in the normal arrangement of DNA nucleotides on the DNA chain.
Failure to repair DNA gene function increases what?
Increase in chances of getting cancer
What does oncogenes mean?
Cancer/tumor genes./
What do oncogenes do?
Growth/go Genes in the human chromosome that promote cell growth differentiation and mitotic activity.
If a proto-oncogene undergoes mutation, what happens?
Unregulated growth goes up, differentiation goes down.
How many oncogenes have been identified?
60
What are the three families of oncogenes? Origins?
Origins:
V- Viral
C- Cellular or chromosomal.

Three types.
ras, neu, myc
Which oncogene family is involved in 30-50% of all cancers?
ras.
What are tumor suppressor genes? What do they do?
aka - Supress, control, "stop" genes

Used to suppress cell proliferation.
Mutation --> Cease function --> unrestrained cell growth --> __________________. What is the result?
Immortal cell.
________ defect on chromosome 17 is implicated in colon and breast cancers
p53
What is a carcinogen?
Cancer causing agent.
What are the direct effects of a carcinogen?
Mutate DNA and/or decrease normal cell function so it cant repair mutations./
What are the direct effects of a carcinogen?
Inflammation, immunosuppressant, and interact with other carcinogens to initiate/promote tumors.
Viral infections cause what % of human cancers? Which ones are most to blame?
15%.

HPV virus - human papillomavirus
Hepatitus
what does neoplasia mean?
formation of neoplasm

Occurs when there is an atypical proliferation of cell growth.
What are the two mechanisms by which viruses can lead to neoplasia?
Alteration of genes by infection, weakening immune system (lowering chances of DNA mutation being fixed).

Products virus makes can cause inflammation, which promotes cell growth/repair, which increases chances of a tumor.
A mutant cell produces __________________. What is the bodies response to this?
Proteins.

Normally proteins are recognized as abnormal by the immune system and attempts to destroy abnormal cells using cell-mediated and humoral mechanisms.
What are some ways to get rid of tumors?
1) Macrophages: Destroy via phagocytosis and secreting tumor necrosis factor.

2) Natural killer lymphocytes: Destroys without prior activation

3) Complement: Stimulate inflammation and cause cell membrane lysis

4) Antibodies: Form against tumor cell antigens and bind to attract complement and phagocytes.

5) Cytotoxic T cells: Recognizes cancer antigens mingled with self MHC antigens.
Why do you get a tumor?
Because of the failure of your bodies immune response.
Describe the development of malignancy.
1) Benign dysplasia --> CIS (carcinoma in situ) --> invasive.

2) Local spread. Sentinel node: Hypothetical first lymph node or group of nodes draining a cancer.

3) Distant spread via:
Seeding: Move along body cavity.
Metastasis: Travel to distant site via blood or lymph

4) Tropism: Affinity to distant sites
Lung cancer --< bone, brain, liver
Look at characteristics diagram 1-8
Look at characterstics diagram 1-8.
What are the local manifestations of a tumor?
- Palpable mass
- Loss of tissue function (replaces healthy tissue).
- Pain of compression/obstruction/destruction of nearby tissue.
- lymphadenopathy (swelling of lymph nodes).
What are the ABCDE side effects of cancer?
Asymettry
Border
Color
Diameter
Elevation
What is paraneoplastic syndromes?
Other symptoms besides direct cancer effects.

Results from hormonal, neurological, hematologic, and chemical disturbances.

Examples: Fever, anorexia, cachexia (wasting away), bleeding, bruising, poor wound healing.
Look at benign versus malignant chart
Look at benign versus malignant chart.
What is a polyp? Papilloma
Any benign tumor projecting from the surface epithelium.
What does oma mean?
Tumor.
What does carcinoma mean?
Malignant tumor arising from surface, glandular, or parenchymal epithelium.
What does sarcoma mean?
Malignant tumor of any primary tissue other than surface, glandular, and parenchymal epithelium
Leukemia
Neoplasm of blood cells.
What are cancer classifications based on?
Tumor size
Nodes
Metastases (spread)
Grading of anaplasia (lack of differentiation) = bad.
What does stage 0 cancer mean?
Carcinoma in situ. Early cancer that is present only in the layer of cells in which it began.
What does stage I, II, and III mean?
High numbers indicate more extensive disease: greater tumor size, and/or spread of the cancer to nearby lymph nodes and/or organs adjacent to the primary tumor.
Stage IV
The cancer has spread to another organ.
In the stages of cancer, which numbers are worse? Better?
Lower number is better, higher is worse.
How do we diagnos cancer?
Imaging: x-ray, endoscopic exams, US, CT, MRI

Biopsy and cytology confirms presence and determines stage of neoplasm.

Tumor markers: Substances detected in cells or body fluids produced by tumor itself, or by other cells in response to tumor.

Blood, urine, and tissue tests. i.e. WBC/RBC Counts
What can we use to monitor treatment effectiveness in cancer?
Tumor markers.

Substances detected in cells or body fluids. Produced by tumor itself, or by other cells in response to tumor.
How do we find tumor markers?
Via blood tests.
What are some examples of tumor markers?
CEA

PSA --> Prostate
What are the goals of cancer treatment?
Eradicate the neoplasms.

Control growth and spread

Reduce symptoms without curing the cancer (palliative care).
What are cancer treatment strategies?
Surgery

Chemotherapy for systemic.

Radiation (targeted or systemic).

Biologic response modifiers (stimulate host immune response)

Hormones
What are other aspects of treatment for cancer?
Phychological aspects.
What does a 5-year survival rate mean for cancer?
% of people alive at five years after diagnosis. Whether they are cured or not.
1970's = What is the 5-year survival rate?

Now = What is the 5 year survival rate?
24% for 1970

45% now.
What kind of cancer has had no progress in survival rate?
Lung cancer.
What is the best way to avoid cancer?
Early detection
What are some ways to prevent cancer?
Avoid carcinogens

Exercise

Consume a healthy, balanced diet

Avoid infection / vaccinate

Protect against chronic injury

Removal or breast/ovaries if BRCA positive.