First Aid: Biochemistry Flashcards
A 6 month old presents with recurrent infections. T-cells, B-cells and gammaglobulins are all low (especially low lymphocytes). What could be the cause of this?
Adenosine deaminase deficiency –> excess ATP and dATP builds up preventing DNA synthesis and toxic to lymphocytes
A patient has defective purine slavage due to absent HGPRT. How would they present and what would you use to treat?
Lesch-Nyhan Syndrome -
Hyperuricemia, Gout, Pissed off (aggression, self mutilation), Retardation, dysTonia
Tx: Allopurinol or febuxostat (2nd line)
A patient has defective purine slavage due to absent HGPRT. How would they present and what would you use to treat?
Lesch-Nyhan Syndrome -
Hyperuricemia, Gout, Pissed off (aggression, self mutilation), Retardation, dysTonia
Tx: Allopurinol or febuxostat (2nd line)
What happens if you are deficient in Xanthine Oxidase? Adenosine deaminase?
XO - uricemia and possibly gout
SCID from adenosine build up in lymphocytes
What could be used to inhibit DNA gyrase or prokaryotic topoisomerase III?
Fluoroquinolones
What disease exhibits a missense mutation in the DNA?
Sickel Cell (nucleotide substitution results in one changed amino acid)
What disease results from a frameshift mutation?
Duchenne muscular dystrophy
What disease result from defects in Nucleotide excision repair?
Xeroderma pigmentosum
What disease can result when there is a defect in DNA mismatch repair? What are such patients at risk for?
Hereditary nonpolyposis colorectal cancer (HNPCC)
Increased risk for ovarian and endometrial cancers
What disease results when DNA double stranded break repair is defective?
Ataxia telangiectasia
How can a drug be made to block DNA replication?
modified 3’OH end halts continued DNA synthesis
How could you halt mRNA synthesis using a natural chemical? What effect would this have in the human body?
alpha-Amanitin can black RNA pol II
causes severe hepatotoxicity if ingested
How could you halt mRNA synthesis using a natural chemical? What effect would this have in the human body?
alpha-Amanitin can black RNA pol II
causes severe hepatotoxicity if ingested
Where does mRNA quality control occur in the cell?
Cytoplasmic P-bodies (exonucleases, decapping enzymes, microRNAs are here)
Which antibodies are highly specific for SLE?
Anti-spliceosomal snRNPs (anti-Smith Abs)
Which antibodies are highly associated with mixed connective tissue disease?
Anti-U1 RNP (component of spliceosome)
Which end of the tRNA molecule binds the amino acid? Which side is responsible for ribosome binding? tRNA synthetase binding?
3’ CCA is amino acid acceptor site
T-arm (thymine, pseudouridine, cytosine) for tRNA ribosome binding
D-arm (dihydrouracil) - for tRNA synthetase binding
Which end of the tRNA molecule binds the amino acid? Which side is responsible for ribosome binding? tRNA synthetase binding?
3’ CCA is amino acid acceptor site
T-arm (thymine, pseudouridine, cytosine) for tRNA ribosome binding
D-arm (dihydrouracil) - for tRNA synthetase binding
What molecular compounds are responsible for tRNA charging and translocation?
ATP - activates (charges)
GTP - translocates (gripping going places)