M2M unit 1 Dieseases/Drugs

Question 1

DDL (deoxyinosine)

Answer 1

Drug that Inhibits DNA synthesis through reverse transcriptase

Question 2

AZT (azidothymidine)

Answer 2

Drug that Inhibits DNA synthesis through reverse transcriptase

Question 3

Gout

Answer 3

Defect in phosphoribosyl synthetase, results in accumulate of purines in tissues

Question 4

Cisplatin

Answer 4

Chemotherapy drug that acts like an alkylating agent

Question 5

Doxorubicin (actinomycin)

Answer 5

blocks DNA replication by intercalation

Question 6

Etoposide and Camptothecin

Answer 6

Cancer drug that targets topoisomerases to prevent DNA replication

Question 7

Acyclovir

Answer 7

targets DNA replication of Viral DNA polymerase

Question 8

Quinolones

Answer 8

Targets DNA replication of Bacteria DNA gyrase (topoisomerase II)

Question 9

Dyskeratosis Congenita

Answer 9

Telomere deficiency syndrome

Question 10

REC Q Helicase mutation

Answer 10

causes progeric sydromes (accelerated aging, increased cancer risk, CV diseases)

Question 11

Werner’s syndrome, Bloom Syndrome, Rothmund-Thomson syndrome

Answer 11

Examples of REC Q Helicase mutation (they Progeria symptoms)

Question 12

Meier-Gorlin Syndrome (dwarfism)

Answer 12

Pre-replication complex mutations (this is in charge of loading Helicase onto Origin of Replication)

Question 13

Cockayne syndrome (CS), xeroderma pigmentosum (XP), Trichothiodystrophy (TTD)

Answer 13

Caused by mutations in Nucleotide excision repair
Chracterized by growth failure, impaired development of the nervous system (CS)
abnormal sensitivity to sunlight and eye disorders (XP),
abnormal sensitivty to sunlight and intellectual impaiment (TTD)

Question 14

HNPCC (Hereditary non-polyposis colorectal cancer)

Answer 14

caused by mutations in machinery of Mismatch Repair

high risk factor for colon cancer

Question 15

Thalassemias β

Answer 15

Inherited mild anermia due to deficient production of β-globin protein by erythoid cells. Caused by mutation in β-globin Promoter.

Question 16

Thalassemias Υβδ

Answer 16

Inherited more serious anemia due to deletion of locus control region (LCR) of the global gene cluster

Question 17

Hemophilia β leyden

Answer 17

X-linked disorder that affects Clotting in males. Due to mutation of promoter of factor IX. At puberty, presence of factor IX goes from 1% to ~60% due to overlapping promoter regions of the androgen receptors which become active at puberty.

Question 18

Fragile X-syndrome

Answer 18

(1/1500 males) results in mental retardation, dysmorphic facial features, and postpubertal macroorchidism (enlarged testis) Caused by CGG repeats in 5’ region of FMR1 gene (responsible for methylating cytosines in CpG islands). This leads to transcriptional inactivation of the FMR1 gene and thus silencing of the FMR1 gene.

Question 19

Craniosynthesis

Answer 19

(1/3000 infants) premature closing of sutures. Caused by mutation of homeodomain protein MSX2. (substitution of AA causes protein to bind more strongly) Protein becomes “hypermorphic allele” and increases transcription for genes in suture closing

Question 20

Androgen Insensitivity syndrome

Answer 20

Feminization or undermasculinization of external genitalia, abnormal sexual development and infertility. Caused by mutation of androgen receptor promoter/enhancer (where Zinc-finger DNA binding protein binds) which makes it less responsive to androgen.

Question 21

Waardenburg syndrome type 2

Answer 21

Deafness and pigmentation abnormalities. Caused by Mutations in the MITF gene which plays a major role in development of melanocytes.