Biological Basis Of Disease Exam 1 (Tulane)

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Acute Disease

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A disease characterized by a rapid onset and short duration

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Chronic Disease

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A disease characterized by a relatively slow progression and long duration

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DALY

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Disability-Adjusted Life Year. A measure of disease morbidity

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Disease

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Any disturbance or anomaly in the normal functioning of the body that probably has a specific cause and indentifiable symptoms

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Endemic

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Disorder cause by health conditions constantly present within a community

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Epidemic

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A sudden rise in the incidence of a disease clearly above the normal endemic levels for a specific area

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Etiological Agent

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Substance or phenomenon causing disease

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Etiology

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Refers to factors that cause disease and their method of introduction to the host

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Incidence

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Rate of new cases in a specified population over a defined period

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Lesion

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A structural or chemical abnormality caused by disease

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Morbidity

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The state of being diseased. In populations expressed as a rate or percentage

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Mortality

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The state of being mortal or the death rate

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Pandemic

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An epidemic spreading across international borders

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Pathogen

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An organism or biological entity that is capable of causing disease

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Pathogenesis

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Describes the development of the disease or, more specifically, how the etiological agent(s) acts to produce the clinical and pathological changes characteristic of that disease

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Pathology

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Refers to structural and functional changes in tissues and organs associated with disease

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Predisposing Factor

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Something that makes individual more susceptible to the disease (e.g., Genetic Predisposition)

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Prevalence

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Number of cases of a specific disease in a specific population at a specific time

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Risk Factor

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Condition (e.g., Lifestlye, Dietary, etc) associated with acquiring or developing the disease (aka, underlying cause)

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Sign

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Something that the clinician specifically looks or feels for, such as redness or swelling of the skin, when examining the patient

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Symptom

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Certain diseases characterized by multiple abnormalities that form a distinct clinical picture (i.e., signs and symptoms that occur together)

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YLL

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Years of (potential) Life Lost

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Cell

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The smallest structure that shows all of the basic characteristics of life

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DNA

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Deoxyrobnucleic Acid. Functions as the hereditary material of an organism. See nucleic acid.

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Endocytosis

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The process by which the plasma membrane engulfs material into membrane bound vesicles

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Enzyme

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A protein that functions as a biological catalyst by promoting chemical reactions between molecules. Enzymes convert substrates to products.

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Eukaryote

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Organisms that have their DNA enclosed in a prominent membrane-bound organelle (i.e., nucleus) and contain other membrane bound compartments. Includes plants, animals, fungi, and protozoa.

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Exocytosis

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The process by which intracellular material is secreted via vesicles fusing with the plasma membrane and releasing the material

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Homeostasis

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The tendency of a physiological system to maintain itself in balance regardless of the changes in the internal and external environment

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Hormone

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A chemical messenger molecule synthesized and secreted by one cell which affects other cell(s). The hormone functions as a ligand which binds to a receptor on the target cell

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Hydrophilic

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A substance that dissolves easily in water (literally "water loving"). Polar and charged substances are hydrophilic.

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Hydrophobic

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A substance that does not dissolve easily in water (literally "water hating"). Nonpolar substances such as oils and fats are hydrophobic.

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Ligand

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A molecule that interacts with or binds to a specific site on a protein. Especially used in the context of (hormone) receptors.

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Lipid

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Amphipathic molecules that function primarily to form cellular membranes.

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Lysosome

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An intracellular membrane-bound organelle containing digestive enzymes which break down molecules

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Macromolecule

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A large molecule such as protein, nucleic acid, or polysaccharide

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Membrane

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A double layer of lipid molecules and proteins that encloses the contents of the cell (=plasma membrane) or cellular organelles

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Mitochondrion

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Membrane-bound organelle that primarily functions in the productions of ATP (i.e., energy)

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Necrosis

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Death of tissue, usually as individual cells, group of cells, or small localized areas

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Nucleic Acid

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A chain of nucleotides joined together by covalent bonds. RNA and DNA are types of nucleic acids

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Nucleus

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The membrane bound organelle of eukaryotic cells that contains DNA and chromosomes

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Organ

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A structure composed of two or more distinct tissue types that function together

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Organelle

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A structure found within eukaryotic cells that performs a specific function. Examples of organelles include: nucleus, mitochondria, lysosomes, Endoplasmic Reticulum (ER), Golgi Apparatus, etc.

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Permeability

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Extent to which a substance can cross a biological membrane

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Plasma Membrane

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The outermost membrane making up a cell which serves to delineate intracellular and extracellular

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Prokaryote

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Single cell organisms lacking membrane-bound organelles (i.e., bacteria)

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Protein

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A linear chain of amino acids that folds into a three-dimensional structure. Proteins are either directly or indirectly responsible for cellular structure and function.

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Receptor

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A protein that specifically binds a ligand (e.g., hormone)

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Tissue

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A group of similar cells and intercellular material specialized to perform a specific function

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Toxin

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Any substance dangerous to life and causing injury to an organism or cell

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Amino Acid

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The smaller molecules which make up proteins. Twenty distinct amino acids are found in proteins. Amino acids contain an amino group and a carboxylic acid group.

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Anabolism

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Energy-requiring biosynthetic aspect of metabolism in which simpler molecules are combined to form more complex molecules

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ATP

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Adenosine 5' -triphosphate. Funtions as the major energy carrier in the cell. ADP = Adenosine 5' -diphosphate. AMP = Adenosine 5' -monophosphate.

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Catabolism

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The aspect of metabolism involving the break down of large molecules into smaller molecules resulting in the release of energy

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Glycolysis

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Metabolic pathway in which glucose is converted to pyruvate and energy is captured in the form of ATP

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Homologous (protein)

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The same protein (or gene) from different species. Homologous proteins will have similar sequences and be evolutionarily related.

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Metabolism

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The sum total of all chemical processes that takes place within a single cell or within all of the cells of an organism

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Oxidative Phosphorylation

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Metabolic pathways in bacteria and mitochondria resulting in the formation of ATP. Electrons are transferred to molecular oxygen resulting in the formation of water. The energy released by this reaction drives the formation of ATP from ADP.

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Phosphorylation

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Chemical reaction in which phosphate is transferred from ATP (or other donor) to another molecule

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Phylogenetics

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The science of estimating the evolutionary past. In the case of molecular phylogenetics DNA or protein sequence comparisons are utilized.

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Polar Molecule

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A molecule which has a polarized distribution of positive and negative charges due to an uneven distribution of electrons. Polar molecules are likely to be soluble in water (i.e., hydrophilic)

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Polymer

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Large molecule made for joining a series of similar units (monomers) via covalent bonds

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Polypeptide

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Linear polymer of amino acids. Can be used interchangeably with protein in most circumstances.

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Protein

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The major macromolecular constituent of cells. Consists of a linear polymer of amino acids that fold into a three dimensional conformation. Can also be referred to as a polypeptide. Generally polypeptide refers to a single chain of amino acids, whereas protein refers to all of the polypeptides that interact to form the complete functional unit.

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Protein Kinase

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An enzyme that transfers a phosphate group protein. Protein phosphorylation generally affects the function of the protein.

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Second Messenger

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A molecule (e.g., cAMP) that is produced in response to a hormone binding to a cell surface receptor. The second messenger then brings about a change in the metabolism of the cell by affecting a target protein (e.g., protein kinase).

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Sequence

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Refers to the order of nucleotides in DNA or RNA or the order of amino acids in proteins

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Signal Transduction

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The process by which a cell converts an external signal (e.g., hormone) into a response

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Substrate

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The starting material of a chemical reaction, especially involving enzymes. Substrates are converted into products.

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TCA Cycle

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Tricarboxylic acid cycle. Metabolic pathway in which the products of glycolysis are broken down into carbon dioxide and water and the electrons are captured for oxidative phosphorylation. Also called citric acid cycle or Kreb's cycle.

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Amino Acid

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The subunits which make up proteins. Twenty distinct amino acids are found in proteins.

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Anti-sense

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The DNA strand that serves as the template for synthesis of mRNA. It is complementary to the sense strand.

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Codon

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Three sequential nucleotides in mRNA that specify a particular amino to be incorporated into the growing polypeptide chain. Some codons specify either the start or stop of protein synthesis.

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Complementary

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Refers to the bases in nucleotides that pair with each other. 'A' pairs with 'T' or 'U' and G pairs with 'C'

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DNA Polymerase

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A complex of proteins (i.e., enzyme) that adds the nucleotides to a growing DNA chain using the complementary DNA strand as the template

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Gene

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A functional segment of DNA located at a particular place on the chromosome (see locus) and is transcribed into RNA. A unit of hereditary that encodes the information needed to specify the order of amino acids (i.e., sequence) in a protein

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Genetic Code

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Set of genetic rules specifing the amino acids which correspond to the 64 possible codons

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mRNA

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Messenger RNA. An RNA molecule that specifies the amino acid sequence of a protein

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Nuclear Receptor

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Receptors for steroid and other hormones that bind to specific DNA sequences following hormone binding. Binding of the hormone-receptor complex to DNA will activate or suppress gene transcription.

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Nucleic Acid

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A chain of nucleotides joined together by covalent bonds. RNA and DNA are the two types of nucleic acids found in cells.

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Nucleotide

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The structural units of DNA and RNA. Consists of a ribose sugar, a purine (A or G) or pyrimidine (C,T, or U) base, and a phosphate group

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Promoter

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Nucleotide sequence in DNA which binds RNA polymerase and other transcription factors and marks the beginning of transcription

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Reading Frame

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Refers to the one of three possible sequential orders of codons in a gene sequence

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Ribsome

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Subcellular structures composed of proteins and rRNA which function in protein trannslation. Ribosomes consist of large and small subunits

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RNA

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Ribonucleic acid. Functions primaril in protein synthesis. The three types are mRNA, rRNA, and tRNA. See nucleic acid.

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RNA Polymerase

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A protein complex (i.e., enzyme) that dds the nucleotides to a growing RNA chain using a DNA strand as the template.

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rRNA

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Ribosomal RNA. The RNA associated with ribosomes

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Sense Strand

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The DNA strand of a gene that is the same sequence as the mRNA corresponding to that gene

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Steroid Hormone

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Hormones derived from cholesterol-like molecules which function b binding to a nuclear receptor and either activating or suppressing transcription of particular genes. Also known as nuclear receptor hormone.

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Transcription

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The synthesis of an RNA molecule from a DNA template

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Translation

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The process by which an RNA sequence is converted into an amino acid sequence of a protein

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tRNA

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Transfer RNA. Small RNA molecules that recognize (via their anti-codon) and have a covalently bound amino acid which corresponds to that particular anti-codon. The amino acid is transferred to growing polypeptide chain during the elongation phase of protein translation.

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Allele

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One of several forms of a particular gene

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Autosomal

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Pertaining to the non-sex linked (i.e., X and Y) chromosomes

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Chromosome

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A structure composed of a long DNA molecule and associated proteins. The chromosome carries the hereditary information of an organism.

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Crossing-over

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The exchange of corresponding segments of homologous chromosomes (i.e., recombination). Occurs at least once per chromosome pair during meiosis. Occurs less frequently during mitosis.

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Diploid

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Referring to cells with pairs of homologous chromosomes (denoted as 2N)

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Dominant

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An allele that is expressed as the phenotype. See also recessive.

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Gene

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A functional segment of DNA located at a particular place on the chromosome (see locus). A unit of heredity that encodes the information needed to specify the order of amino acids (i.e., sequence) in a protein.

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Genotype

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The genetic composition of an organism. See also phenotype.

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Haploid

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Referring to a cell that only has one member of homologous pairs of chromosomes (denoted as 1N)

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Heterozygous

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Referring to a diploid cell or individual with two different alleles for a particular gene

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Homozygous

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Referring to a diploid cell or individual with the same alleles for a particular gene

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Karyotype

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Full set of chromosomes of a cell arranged with respect to size, shape, and number

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Locus

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The physical location of a gene (or encoded trait) on a chromosome

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Meiosis

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Special type of cell division involved in oogenesis and spermatogenesis. Comprises two successive rounds of nuclear division and cytokinesis with only one round of DNA replication.

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Mitosis

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A type of cell division in eukaryotic cells in which duplicated chromosomes are distributed between two nuclei in daughter cells.

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Mutation

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Damage or an error in DNA that results in a non-functional or partially functional protein.

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Oogenesis

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Formation and maturation of oocytes (i.e., ova or eggs) in the ovaries

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Phenotype

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The observable traits or characteristics of a cell or organism. See also genotype

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Polygenic

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A trait influenced by multiple genes

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Polymorphism

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Referring to alternate forms of the same organism, protein, or gene

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Recessive

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An allele or trait that is masked by a dominant allele. Recessive alleles are expressed as the phenotype only if homozygous.

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Sex-linked

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Referring to traits or genes on either the X or Y chromosomes

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Sister Chromatids

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The two replicated chromosomes that are still joined at the centromere

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Spermatogenesis

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The process by which sperm are formed

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Zygote

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A diploid cell formed by the fusion two haploid gametes (e.g., sperm and egg)

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ADA

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Adenosine Deaminase. An enzyme involved in nucleotide metabolism. Deficiencies in this enzyme lead to SCID.

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Biopharmaceutical

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A pharmaceutical (e.g., drugs, vaccines, etc.) derived from biological sources and especially those produced using biotechnology

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Gene Therapy

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An experimental treatment involving the introduction of DNA into an individual's cells for the purpose of curing or controlling a disease

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Genetic

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Refers to the process of producing recombinant DNA to be introduced into an organism. See also transgenic.

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GM food

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Genetically modified food. Food produced from transgenic plants.

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Golden Rice

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A genetically engineered rice that contains the vitamin A precursor in the edible portion and may be used to alleviate vitamin A deficiency in developing countries

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OTC

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Ornithine Transcarbamylase. An enzyme that is part of the urea cycle and plays a critical role in converting nitrogen waste products such as ammonia into urea which is excreted with the urine.

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Plasmid

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A small autonomously replicated DNA found primarily in bacteria. Plasmids are widely used as vectors in recombinant DNA.

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SCID

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Severe combined immuodeficiency disease. A disease in which both the humoral and cell-mediated immune responses are not functional.

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Transgenic

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An organism in which DNA from another organism has been introduced

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Vector

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An autonomously replicating DNA, such as a virus or plasmid, which is combined with the foreign DNA during recombinant DNA procedures

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Virus

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A noncellular infectious agent consisting of a protein coat surrounding its genome (i.e., DNA or RNA)

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Analytical Epidemiology

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The study of disease determinants, including causative factors, individual susceptibility and environmental exposures. Relative risks and odds ratios are evaluated for potential determinants of disease.

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Bioinformatics

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The use of techniques from applied mathematics, informatics, statistics, and computer science to solve biological problems (aka, computational biology)

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Biomarker

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Any structure, suvstance, or process which can be measured that may influence or predict the occurence or outcome of diseases

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Descriptive Epidemiology

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The study of the distribution of disease in populations. For example, incidence and prevalence rates of disease can be correlated with time and place and serve as a measure of disease burden.

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Gene Chip

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A piece of glass or plastic with an array of different singe-stranded DNA reporters (or probes) that is used to detect specific nucleic acids in a sample.

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Genetic Fingerprinting

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Refers to the use of molecular probes or DNA sequence to type organisms. Can be used to identify individuals.

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Genome

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Complete set of genetic information in an organism

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Genomic Medicine

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Health care utilizing advances made by genomics and molecular biology. Genomic medicine holds the promise of personalized therapies.

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Genomics

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The study of genomes and derivatives from the genome (i.e., functional genomics)

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Metabolome

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The complete set of metabolites in a cell, tissue, or organism

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Microarray

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See Gene Chip

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Molecular Epidemiology

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The application of the various techniques derived from immunology, biochemistry, molecular biology, and genetics fro the purpose of identifying and determining the distributions or etiological determinants of disease

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PCR

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Polymerase chain reaction. A technique by which a specific nucleic acid fragment (PCR product) is amplified through the use of specific DNA primers.

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Pharmacogenetics

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The stud of human genetic variability in relation to drug action and its application to medical treatment (aka, pharmacogenetics)

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Primer

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A short single-stranded nucleic acid molecule used to hybridize to a complementary nucleic acid and serves as the starting point for synthesis of the complementary strand of the target molecule

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Probe

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A singe-stranded nucleic acid that is used to detect specific molecules of DNA or RNA based on sequence complementarity

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Proteome

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The complete set of proteins in a cell, tissue, or organism

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Transcriptome

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The complete set of transcripts (i.e., RNA molecules) in a cell, tissue, or organism

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Blastocyst

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An early stage of human embryonic development consisting of a hollow ball of cells and inner cell mass. (Also known as blastula).

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Cell Cycle

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The orderly sequence of event describing the duplication of a cell into two equal cells. Events include: Gap 1 (G1), DNA Synthesis (S-Phase), Gap 2 (G2), and mitosis (M-Phase).

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Differentiation

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The process by which relatively unspecialized cells become specialized cells found in tissues and organs

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Ectoderm

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The outermost embryonic tissue layer which gives rise to the epidermis and nervous system

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Embryo

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The early stages of development which do not yet resemble the adult of that species

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Endoderm

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The innermost embryonic tissue layer which gives rise to structures such as the inner lining of the digestive and respiratory systems

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Epigenetic

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Refers to heritable changes in gene function that occur without a change in the DNA sequence. Can include the modification of DNA or chromosome structure.

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Epitheluim

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The covering of internal and external surfaces of the body. Glands are also formed from epithelial cells.

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Gamete

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Haploid germ or sex cell (e.g., sperm and egg)

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Gap 1 (G1)

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The portion in the cell cycle following mitosis but before the beginning of another round of cell replication. This represents a period of cellular growth and regulatory events determining whether a cell will replicate.

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Gap 2 (G2)

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The portion in the cell cycle representing a checkpoint between DNA synthesis and mitosis. DNA damage and the correct duplication of Chromosome are assessed before proceeding to mitosis.

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Inner Cell Mass

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A group of cells in the blastocyst which will form the embryo

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M-Phase

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The mitotic period in the cell cycle in which the chromosomes are separated, the nucleus divides, and cytokinesis occurs

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Mesoderm

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The middle embryonic tissue, lying between the ectoderm, which will give rise to structures such as muscle and skeleton

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Morphogenesis

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Process involving dramatic changes in the shape and form of an organism during development

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Morla

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A development stage consisting of a solid ball of cells following the initial rounds of cell division in the zygote

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Multipotent

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A stem cell capable of forming many different types of cells in a particular cell lineage, but incapable of forming cells from other cell lineages

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Pluripotent

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A cell capable of forming any other type of cell, but cannot form the entire organism (see totipotent). Embryonic cells from the inner cell mass of the blastocysts are pluripotent.

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Primary Tissues

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Refers collectively to ectoderm, mesoderm, and endoderm. (Also called the primary germ layers).

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S-Phase

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The period in the cell cycle in which the DNA is copied (i.e. synthesis)

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Stem Cell

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General term for any cell that has not differentiated and is capable of undergoing cell division

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Trophoblast

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The cells making up the outer sphere of the blastocyst which will ultimately become the placenta

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Zygote

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A diploid cell formed by the fusion of two haploid gametes