Special Lecture on Diseases Flashcards
What is Short Telomere Syndrome?
Accelerated aging syndrome often caused by inheritable gene mutations resulting in decreased telomere lengths. Heavy associating with premature age, rare.
What are the consequences of shorten telomeres?
More likely to increase the chance that chromosomes will stop replicating due to aging.
What is the consequence of loss of function for telomerase?
It would be a fatal sign. Chromosomes would be lost per replication cycle.
Cancer is described as?
An unstable cell that has avoided all DNA checkpoints that would initially catch unstable elements. Therefore, it has developed into a “perfect” cell with activation of oncogenes for proliferation.
Cancer is equal to
Instability of genome
Xeroderma Pigmentosum
Autosomal recessive disease seen with abnormal skin pigmentation and acute sensitivity to light. It has a strong predisposition to skin cancer. Genetically, due to mutation in pyrimidine dimer repair. No real therapy but treatment of symptoms are available.
What are some (4) ways that mutations can occur?
Spontaneously via replication errors or chemical errors. Chemically induced errors
Radiation
Is adaptive mutations good or bad?
Its GOOD for evolution by increasing variation. Stressful environments causes mutations by adapting to this stressful environment (good and/or bad).
Explain UV Induced mutations
Formation of pyrimidine dimers where two thymine bases are covalently linked and blocks replication. Older you get, mechanism to prevent replication of dimers is less likely.
Individuals with Xeroderma Pigmentosum have cells are not disrupted from nucleotide-excision repair
False, it is defective in nucleotide excision repair
What is ATM?
Ataxia-telangiectasia, a phosphatidylinositol 3-kinase mutation that eliminates or lowers protein production of the ATM. Causes a domino effect by allowing unregulated cell growth (tumors) and inappropriate cell deaths. Death of brain cells…impact human movements.
