Flashcards in Biochem Deck (48):
-found in death cap mushroom.
-inhibits RNA pol 2 (makes mRNA).
-mRNA quality control.
-contain exonucleases, decapping enzymes, and microRNAs
-mRNAs may be stored here for future translation.
-Abs against these = anti-smith Abs
-specific for SLE
-Removal of N- or C-terminal propeptides from zymogen to generate mature protein (e.g., trypsinogen to trypsin).
Ingredients to make Niacin (B3)
Base excision repair
1-glycosylase = strips off base
2-endonuclease = cleaves 5' end
3-lyase = cleaves 3' end
Enhancers and silencers (of gene expression)
-Golgi => Golgi
-Golgi => ER
-Golgi => Golgi
-ER => Golgi
Catalyzes peptide bond formation btwn amino acids
Inhibits Na/K ATPase by binding to K site.
Type 3 Cartilage
Problems forming triple helix in RER (collagen).
Problems cross-linking collagen (lysyl oxidase)
-impaired copper absorption and transport.
-leads to dec. lysyl oxidase activity (cross links collagen)
-brittle, “kinky” hair, growth retardation and hypotonia.
One gene contributes to multiple phenotypic effects.
Dominant negative mutation
Exerts a dominant effect. A heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning.
-Mutation of a transcription factor in its allosteric site. Nonfunctioning mutant can still bind DNA, preventing wild-type transcription factor from binding.
-lethal if themutation is somatic, but survivable if mosaic.
-polyostotic fibrous dysplasia with cafe-au-lait skin
pigmentation and endocrinopathies.
Mutations at different loci can produce a similar
Different mutations in the same locus produce the same phenotype.
Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrial inherited disease.
meiosis 1 error
meiosis 2 error
Prader-Willi & angelman
-or uniparental disomy. Inherit two methylated copies.
Formerly known as vitamin D–resistant rickets. Inherited disorder resulting in phosphate wasting at proximal
tubule. Results in rickets-like presentation.
rare disorders; often present with myopathy, lactic acidosis and CNS disease. 2° to failure in oxidative
phosphorylation. Muscle biopsy often shows “ragged red fibers.”
-5 letters in "polyp".
aka Hereditary hemorrhagic telangiectasia
-Inherited disorder of blood vessels.
-Findings: telangiectasia, recurrent epistaxis, skin discolorations, arteriovenous malformations (AVMs), GI bleeding, hematuria.
-17 letters in “von Recklinghausen.”
-NF2 = 22
-VHL = 3 letters
The frequency of an X-linked recessive disease
in males = q and in females = q^2.
-infertility in males due to abscence of vas deferens and therefore absent sperm.
-Tx of CF = N-acetylcysteine, dornase alfa
-Dilated cardiomyopathy = common cause of death.
-X-linked point mutation
Myotonic type 1 MD
-CTG trinuc. repeat in DMPK gene.
-abnormal expression of myotonin protein kinase.
-frontal balding, testicular atrophy, arrythmia.
-whats the trinuc?
-Brushfield spots, gap btwn first 2 toes, hirschsprungs.
-meiotic nondisjunction, robertsonian translocation, mosaicism.
-First-trimester ultrasound commonly shows:
nuchal translucency and hypoplastic nasal
bone; dec. PAPP-A, inc. b-hCG.
-Second-trimester quad screen shows:
dec. α-fetoprotein, inc. b-hCG, dec. estriol, inc.
-micrognathia, low set ears, congenital heart disease, clenched hands,
-PAPP-A and b-HCG = both dec in 1st trimester.
-Quad screen: everything dec. (AFP, B-hCG, estriol, inhibin A).
-microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, congenital heart disease.
-dec. b-hcg & PAPP-A.
-inc. nuchal translucency.
-microcephaly, intellectual disability, high-pitched
crying/mewing, epicanthal folds, cardiac abnormalities (VSD).
-7q microdeletion (incl. elastin gene).
-“elfin” facies, intellectual disability, hypercalcemia ( sensitivity to vitamin D), well-developed verbal skills, extreme friendliness with strangers, cardiovascular problems.
treates measles & AML-M3
Cheilosis, Corneal vascularization.
Vitamin C: uses
-Reduces ferric to ferrous
-hydroxylation of lysine & proline
-dopamine => NE
-can enhance anti-coag effects of warfarin. May lead to bleeding problems.
-No passage from G1 to S.