Disease Lect 1

Question 1

Hereditary spherocytosis

Answer 1

Hemolytic anemia results b/c of genetic mutations of RBC membrane cytoskeleton
RBCs destroyed one spleen

Question 2

Alpha-amanitin

Answer 2

Toxin produced by amanita phalloides death cap mushrooms

Mechanism: it inhibits RNA pol, particularly pol II at both initiation and elongation states of transcription
Symptoms: nausea, vomiting, diarrhea, abdominal pain, weakness, jaundice, dehydration, kidney, hepatic damage

Question 3

Actinomycin D

Answer 3

Antibiotic
Has high antibacterial and anti tumor activity
Mechanism: interferes with rna Pol and inhibits transcription
Inhibits both DNA and RNA synthesis by blocking chain elongation
Used clinically as chemotherapy: Wilma tumor, rhabdomyosarcoma, Ewing’s sarcoma, testicular cancer etc

Question 4

Thalassemia

Answer 4

Mutations affectingbRnA processing - can lead to production to aberrant proteins
Quantitative mutations in globin genes
Hpv
Mutations in splice sites at intron/exon boundaries destroy normal splicing of beta- globin pre-mRNA lead time a lack of functional beta-globin protein
Mutation in poly Adenylation signal of beta globin gene results in beta+ thalassemia
— homozygous persons produce 10% of normal amount of beta globin

Question 5

Systemic lupus erythematous

Answer 5

Splicing is mediated by snRNPs
This is how snRNPs we’re discovered because of Abs against patients of sle
Persons ABs attack their own cell components including snRNPs