DNA Transcription

Question 1

Mushroom Poisoning

Answer 1

amanitin. binds back of RNA Pol II (major processive Transcription enzyme). restricts flexibility. severe liver damage, kidney failure, coma, death.

hemodialysis to remove amantin, gastric cleansing to remove amantin, liver transplant, massive doses of penicillin, milk-thistle extract (inhibit amantin hepatic damage)

Question 2

HIV

Answer 2

viral Tat protein=anti-termination factor. Hyperphosphorylation of CTD prevents termination.

Question 3

B-Thalassemia

Answer 3

mutation in B-globin. decrease Hemoglobin A (aB), increase Hemoglobin A2(ay). less B globin.
thalassemia=sea blood. Mediterranean 1:10.
B Thalassemia Major / Cooley’s anemia: no B globin expression. affects splicing
B+Thalassemia / B Thalassemia minor: reduced B globin

Question 4

Lupus (Systemic Lupus Erythematous: SLE)

Answer 4

autoimune antibodies attack snRNPs. multiorgan dysfunction

Question 5

Myotonic Dystrophy

Answer 5

inability nuclear export. DMPK (Dystrophia Myotonica Protein Kinase) def. most common adult muscular dystrophy.
abnormal Thenar reflex, electromyogram shows myotonic discharge (continuous firing of action potential). improper relaxation, muscle wasting
severity correlates with # CTG repeats. diagnosed by measuring CTG repeats using PCR.
aberrant splicing of muscle Chloride Ion Channel gene.