Drugs & Diseases

Question 1

Topoisomerase I inhibitor = __
Topoisomerase II inhibitor = ___

how do they work?

Answer 1

Irinotecan

Anthracylines: Doxorubocin, Daunorubocin

Topoisomerase Inhibitors block the cell cycle, generate single/double stranded breaks, harms integrity of the genome, leads to apoptosis and cancer cell death

Question 2

Hereditary nonpolyposis colorectal cancer

Answer 2

mutation in MER complex (MSH 2, MLH1)
which binds to DNA and recovnizes the mismatch in daughter strand, which gets cut and mismatch removed. This is defective.
incr. risk of nonpolyposis colorectal cancer, and MER system, if mutated, allows for tumor development

Question 3

Xeroderma pigmentosum

Answer 3

NER complex
and XP proteins defective (XP-A - XP-G)
skin sensitive to direct sunlight and prone to getting melanomas, squamous cell carinomas
cyclobutane thymine dimers form in the DNA

Question 4

Cockayne Syndrome

Answer 4

TCR (transcription-coupled repair) mutation (ERCC6, ERCC8 mutants)
RNA ppolymerase permanenely stalled at sites of damage and important genese.

cell dysfunction and cell death, with enurologic delay, photosensiticity, hearing loss and eye abnormalities

Question 5

BRCA mutations

Answer 5

Repari by homologous recombination is affected
BRCA 1,2 are tumor suppressor genese, and incr. women’s reisk for ovarian/breask cancer if mutated
1: cervical cancer, pancreatic, colon cncer
2: breast, ovarian, prostate, melanoma, pancreateic, stomach etc.

Question 6

defect in Ataxia telangiectasia (AT)

Answer 6

ATM protien, protein kinase activated by 2x stranded breaks

leukemia, lymphoma

Question 7

Fanconi anemia groups A-G

Answer 7

DNA inter strand cross-link repair

leukemia, congenital abnormalities

Question 8

Rifampicin treatment

Answer 8

inhibits bacterial RNA synthesis
treatment —> upregulation of hepatic cytorchrome P-450 enzymes taht incr. metabolism of otehr drugs and hormones.
imparts red color to urine, sweat, tears for short time after getting.

Question 9

Sickle Cell Anemia

Answer 9

GAG to GTG, Val (hydrophobic) replaced with GLU (- charge, hydorphillic)
rigid, rod RBCs bc. HbA’s conformation changes
poor O2 capacity, clogged cappilaries

Question 10

Duchene Musc distrophy

ended in second genetics lecture

Answer 10

dystrophin gene
OOF deletions (out of frame)  litte/not expressed for dystrophin gene 
muscle wasting, and dystrophine if truncated from in-frame deletions ----> Becker musc. dystrophy