Biochem Block 1 Flashcards
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- Frontotemporal Dementia with Parkinsonism
- a mutation in exon 10 of the Tau microtubule associated protein gene which promotes a more stable protein. Mutant Tau form an abnormal filamentous structure in the brain of STDP-17 patients.
- Becker Muscular Distrophy
- - mutation in exon 27 of the dystrophin gene, which affects the protein and further muscle fiber formation
- Spinal Muscular Atrophy
- - a mutation in exon 7 of the SMN-1 gene leads to the decreased survival of motor neurons
- Systemic Lupus Erythematusus
- an autoimmune disease in which serum antibodies to U1 are formed. Blocks spicing
- MARFANS
- splicing defent in fibrillin – mutation that leads to defects in microfibils and elastic tissues surrounding the aorta
- Cordyceptin
- chain terminator that lacks 3’ OH
- Daunorubicin
- - intercalates between base pairs
- actinomycin D
- intercalates between two G-C base pairs in DNA so ineffective template
- a- amanitin
- mushroom toxin, potente inhibitor of RNA polymerase II
- Rifampicin
- – inhibits bacterial RNAP’s, important in treatment of tuberculosis
- Doxorubicin and Etoposide
- - used to treat cancer, all of the above increase the rate that TopII cleaves the double stranded DNA, which overwhelms the cells ability to repair the damage
- Norfloaxicin and Ciprofloxacin
- - target bacterial topisomerase II
- Xeroderma Pigmentosm
- defect in the nucleotide excision repair mechanism for thymine dimers, rare 1000 cases world wise, wide range of symptoms, blindness, deafness, blistering, freckling, dwarfism, etc
- HNPCC
- – Hereditary Non-polyposis colorectal Carcinoma) 1.200 people defect in a gene for mismatch repair
- Werner Syndrome
- due to a defect in DNA helicase
- Bloom Syndrome
- ( small body, sun sen, hypo or hyper pigmented lesions, immunodiffency, cancer, diabetes, lung) due to an abolition of Ligase I activity needed to complete DNA repair
- Fanconis Anemia
- Ataxia telangiectasa, Gardners Syndrome--- due to defects in Ligase activity
- Breast Cancer
- – some forms of breast cancer are due to defects in breast cancer susceptibility genes ( BRCA… they participate in DNA repair)
- Li –Fraumeni
- mutations in p53⬦ lots of cancer 90%by age 70
- Famililal Hyperproinsuliemia
- abnormally processed insuling due to deficience in enzyme that process insulin. Afflicted individuals are normal in glucose metabolism
- I- Cell Disease
- lack of glycosyl transferase therefore can not properly target lysosomal enzymes
- Type IV Ehlers - Danlos
- caused by a deficency in lysyl hydroxylase
- Streptomycin ( and otether aminoglycosides )
- inhibit initiation and cause misreading of mRNA ( prokaryotes)
- Tetracycline
- binds to the 30S subunit and inhibits binding of aa-tRNAs
- Chloramphenicol
- Inhibits peptidyl transferase activity of the 50S ribosomal subunit
- Cycloheximide
- Inhibits the peptidyl transgerase activity of the 60S ribosomal subunit
- Erythromycin
- binds to the 50S subunit and inhibits translocation
- Puromycin
- causes the premature chain termination by acting as an analog of aa tRNA
- Diptheria
- blocks eukaryotic translation by inhibiting translocation ; ADP reibsylation of EF2 - translocase