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37 Cards in this Set
- Front
- Back
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Hypercholesterolamia can be labeled as a ____________ disorder. |
Genetic |
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What occurs in hypercholesterolamia? |
LDL receptor is lacking or are destroyed causing cholesterol to remain in the blood |
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Hypercholesterolamia can cause: |
Atherscelrosis (leading to) Myocardial infarction, stroke |
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What causes Atherosclerosis: |
Blockage of coronary artery leading to a deficiency of oxygen |
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Deficiency of integral proteins cause: |
Hormonal disorder |
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What organelle deficiency causes malformation of fetus in a pregnant woman? |
Peroxisomes |
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Deficiency of actin protein causes: |
Muscle weakness and weak immune system |
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Tay-Sachs disease is known as: |
Fatal genetic lipid storage disorder |
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What occurs in Tay-Sachs disease? |
Infants lack the enzyme to break down glycolipids causing it to accumulate in the cell membrane and specially in neurons |
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Accumulation of glycolipids in the tissue and nerve cells of the brain is called: |
Ganglioside |
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Symptoms of Tay-Sachs disease: |
Mental retardation, spastic movement, blindness, death within 1.5 years after birth |
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Accumulation of glycolipids can destroy which organs? |
Liver and spleen |
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Gaucher's disease: |
Deficiency of glucocerebrosidase |
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Gaucher's disease: |
Deficiency of glucocerebrosidase causing an accumulation of harmful substances in certain organs |
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Which organs are harmed from Gaucher's disease? |
Liver, spleen, bone, bone marrow |
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Other symptoms of Gaucher's disease: |
-lung disease -seizures -bone pain and fracture -enlarged liver and/or spleen |
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Type 1 Gaucher's disease: |
-Most common -Effects children and adults - symptoms: anemia, bone disease, enlarge spleen, thrombocytopenia |
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Type 2 Gaucher's disease: |
Occurs in infancy and has neurological involvement which can cause sudden death |
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Type 3 Gaucher's disease: |
Involves liver, spleen, and brain disease and patients can live till adulthood |
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What occurs when there's too much apoptosis? |
Nerve cell loss causes Alzheimer's and stroke |
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Too little apoptosis is linked to: |
Causing cancer and autoimmune diseases |
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__________ is when the cell grows and multiplies. |
Neoplasm |
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Describe two types of neoplasm (cancer): |
Benign: encapsulated cell growth, grows slowly and can die off from host Malignant: non-encapsulated, grows rapidly and invading its surroundings |
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What are oncogenes caused from? |
Mutation of prooncogenes |
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Protooncogenes are used for: |
Stimulating/ inhibiting cell proliferation and development |
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What cancers are caused by oncogenes? |
Bladder cancer Acute malygenous leukemia |
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What causes cells to get into a cancerous state? |
When oncogenes attach to dominant normal alleles it causes them to have irregular cell division |
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Aneuploidy is defined as: |
Abnormal number of chromosomes |
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Describe cause and symptoms to Down syndrome. |
Trisomal 21 Symptoms: mental retardation, speech and learning disorder, shorter, memory disorder, smaller head |
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Describe cause and symptoms to Down syndrome. |
Trisomal 21 Symptoms: mental retardation, speech and learning disorder, shorter, memory disorder, smaller head |
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Is there any treatment to Down syndrome? |
No treatment |
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How can a pregnant woman find out if there's something wrong with her child? |
Taking amniotic fluid in for a lab study and checking the alphfeto protein level |
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Kleinfelter syndrome cause and result: |
XXY Genotype: male Phenotype: female |
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Symptoms of kleinfelter syndrome: |
-smaller penis -ovary, uterus -lack of scrotum/testicle -can't have normal reproductive life |
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Examples of male hormonal disorder: |
-deficiency of testosterone and increased estrogen -conversion of testosterone to estrogen |
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Example of converting testosterone to estrogen |
80% obese people have extra fat tissue which causes an increase in the enzyme aromotase, which converts it |
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What occurs when there is excess hormones in male and female: |
Male (excess estrogen) causes effect on genital development leading to breasts and other sex characters Female (excess testosterone) leads to intersexuality in fetal life |
