Biochem Block 1 Flashcards

Front 1

Frontotemporal Dementia with Parkinsonism

Back 1

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.

Front 2

Becker Muscular Distrophy

Back 2

- mutation in exon 27 of the dystrophin gene, which affects the protein and further muscle fiber formation

Front 3

Spinal Muscular Atrophy

Back 3

- a mutation in exon 7 of the SMN-1 gene leads to the decreased survival of motor neurons

Front 4

Systemic Lupus Erythematusus

Back 4

an autoimmune disease in which serum antibodies to U1 are formed. Blocks spicing

Front 5

MARFANS

Back 5

splicing defent in fibrillin – mutation that leads to defects in microfibils and elastic tissues surrounding the aorta

Front 6

Cordyceptin

Back 6

chain terminator that lacks 3’ OH

Front 7

Daunorubicin

Back 7

- intercalates between base pairs

Front 8

actinomycin D

Back 8

intercalates between two G-C base pairs in DNA so ineffective template

Front 9

a- amanitin

Back 9

mushroom toxin, potente inhibitor of RNA polymerase II

Front 10

Rifampicin

Back 10

– inhibits bacterial RNAP’s, important in treatment of tuberculosis

Front 11

Doxorubicin and Etoposide

Back 11

- 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

Front 12

Norfloaxicin and Ciprofloxacin

Back 12

- target bacterial topisomerase II

Front 13

Xeroderma Pigmentosm

Back 13

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

Front 14

HNPCC

Back 14

– Hereditary Non-polyposis colorectal Carcinoma) 1.200 people defect in a gene for mismatch repair

Front 15

Werner Syndrome

Back 15

due to a defect in DNA helicase

Front 16

Bloom Syndrome

Back 16

( 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

Front 17

Fanconis Anemia

Back 17

Ataxia telangiectasa, Gardners Syndrome--- due to defects in Ligase activity

Front 18

Breast Cancer

Back 18

– some forms of breast cancer are due to defects in breast cancer susceptibility genes ( BRCA… they participate in DNA repair)

Front 19

Li –Fraumeni

Back 19

mutations in p53… lots of cancer 90%by age 70

Front 20

Famililal Hyperproinsuliemia

Back 20

abnormally processed insuling due to deficience in enzyme that process insulin. Afflicted individuals are normal in glucose metabolism

Front 21

I- Cell Disease

Back 21

lack of glycosyl transferase therefore can not properly target lysosomal enzymes

Front 22

Type IV Ehlers - Danlos

Back 22

caused by a deficency in lysyl hydroxylase

Front 23

Streptomycin ( and otether aminoglycosides )

Back 23

inhibit initiation and cause misreading of mRNA ( prokaryotes)

Front 24

Tetracycline

Back 24

binds to the 30S subunit and inhibits binding of aa-tRNAs

Front 25

Chloramphenicol

Back 25

Inhibits peptidyl transferase activity of the 50S ribosomal subunit

Front 26

Cycloheximide

Back 26

Inhibits the peptidyl transgerase activity of the 60S ribosomal subunit

Front 27

Erythromycin

Back 27

binds to the 50S subunit and inhibits translocation

Front 28

Puromycin

Back 28

causes the premature chain termination by acting as an analog of aa tRNA

Front 29

Diptheria

Back 29

blocks eukaryotic translation by inhibiting translocation ; ADP reibsylation of EF2 - translocase