Diseases/Clinical Correlations Flashcards
Cyclophosphamide
bi-functional alkylating agent that forms inter and intra strand DNA crosslinks
blocks replication and triggers apoptosis
it is converted to phosphoramide mustard by the liver
Rubinstein-Taybi Syndrome
arises by a mutation in CREB binding protein; memory and cognition problems
Ricin is what and does what?
a glycosidase that removes adenine bases from various positions of rRNA in the large subunit.
What is a glycosidase that removes adenine bases from various positions of rRNA in the large subunit?
ricin
What arises by a mutation in CREB binding protein; memory and cognition problems?
Rubinstein-Taybi Syndrome
What inactivates EF-2 by ADP-ribosylation?
Diptheria toxin
How does diphetia toxin work?
inactivates EF-2 by ADP-ribosylation
What happens in I-cell disease?
phosphomannose is not produced so lysosomal proteins do not reach their compartments and function is compromised
undegraded proteins in lysosome
What lysosomal storage disease results from phosphomannose not being produced, so lysosomal proteins do not reach their compartments?
I-cell disease
What is Charcot Marie Tooth Disease?
mutations in Heat shock proteins (chaperone); lead to protein misfolding disorders
Congenital Disorders of glycosylation result in what?
impair N-linked glycosylation of proteins; this will prevent secretion and impair EC enzymatic repair actions;
hypoglycemia, hypotonia
Multiple Sulfatase deficiency?
This is a failure in modification of a protein: the thiol group in cysteine can be converted into an aldehyde to form forymlgylcine; this is important for lysosomal sulfatases; a failure to do this cases sulfated glycosaminogylans to accumulate in the lysosome
What is a rare mitochondrial disorder, that is caused by a mutation in the TIM component that impair cellular energy production by preventing the assembly of fully functional mitochondira?
Deafness-dystonia syndrome
Protein sorting defects can lead to many inherited disorders. What are two we talked about in class?
CTFR: mutation interferes with folding/glycosylation of the protein causing CFTR protein to be moved into the cytosol and degraded.
I-Cell: transfer of phosphate to mannose is impaired; therefore, lysosomal proteins do not reach their compartment
Ataxia telangiectasia?
Results from a mutation in the protein kinase ATM; cells are unable to respond to double stranded breaks
What disease results from a mutation in ATM causing the cells to be unable to respond to double-stranded breaks?
Ataxia telangiectasia
Burkitt’s Lymphoma?
results from a translocation of the c-myc gene; the myc gene is now near the genes encoding antibody heavy chains; results in a continually expressed myc, causing the B-cell to become cancerous?
In what cancer do B-cells become cancerous? Why?
Burkitt’s Lymphoma. c-myc is translocated next to the promotor and continually on
Retinoblastoma?
defect in RB1 gene;
in hereditary: child inherits 1 RB1 mutated gene; a second mutation can arise and tumors form
sporadic: individuals inhert 2 normal RB1 alleles; however, 2 seperate mutations can arise and cause double blindness
What causes Li Fraumeni syndrome?
mutant P53 allelle; appearance of multiple tumors (breast cancer, sarcomas, brain tumors, etc)
dominant negative effect
Doxorubicin
human Top II inhibitor and anticancer agent
Nalidixic acid and ciprofloxacin?
bacterial top II inhibitor and function as antibiotics
Lynch Syndrome?
also called hnpcc.. hereditary nonpoly colorectal carcinoma; caused by a defect in strand-directed mismatch repair; 80% chance of getting colon cancer
Xeroderma pigmentosum?
caused by a mutation in nucleotide exicision repair mechanism; sensitivty to light, etc
Cytarabine?
analogue of cytidine that contains arabinose in place of ribose; for treatment of leukemias; converted to cytarabine triphosphate in cells; competes with deoxyribose for binding to DNA polymerases and DNA replication and repair is blocked
How does the death cap mushroom work?
it contains a-amanitin; which is an inhibitor of Poll II, and blocks the synthesis of mRNA
What is rifampicin?
an antibiotic that is an inhibitor of RNA polymerase found in bacteria; human bac not affected
What is B-thalassemia?
there is reduced synthesis of the B-chain of hemoglobin; resulting in profound anemia; results from a mutation in the B-globin gene that alters the nucleotide sequence at the intro/exon boundary
-no consensus sequence, resulting in an alternate splice site. Results in either splicing of an exon or splicing of an intro.
What antibiotic binds to the small subunit and inhibits initaiton?
Streptomycin
What antibiotic binds to the A site and prevents tRNA binding?
tetracycline
What antibiotic binds to ribosomes and causes mistranslation of codons?
neomycin and gentamicin
What antibiotic prevents peptidyl bond formation?
chloramphenicol
