Biochem UWorld Flashcards
Collagenases are what kind of enzyme
MMP matrix metalloproteinases
Marfan’s gene
Fibrillin-1 gene
The PI3K/Akt/mTOR pathway
anti-apoptosis, cellular proliferation, and angiogenesis. mutations in these lead to cancer pathogenesis
IP3
activates Protein Kinase C
Branched chain fatty acids undergo what for breakdown
Alpha-oxidation
problems with ubiquitin-proteasome system can lead to
Parkinson and Alzheimer’s
Mousy odor in a child with fair colored features
Phenylketonuria. Tyrosine is an essential enzyme because they can’t make it from phenylalanine anymore. Can’t produce melanin either.
PKU caused by
mutation in phenylalanine hydroxylase enzyme
Nitrates in diet do what to DNA
deaminate cytosines, adenines, and guanines
In base excision repair….
AP endonuclease cleaves 5’ side before lyase cleaves 3’ side
Iron deficient anemia can present with
Dysphagia (esophageal webs) and dysfigured fingernails (spoon nails (koilonychia))
Plummer-Vinson or Patterson Kelly syndrome
Iron deficiency anemia with dysphagia from esophageal webs??
Pernicious anemia classic presentation
Older, mentally slow woman of northern European descent who is “lemon colored” (anemic and icteric) with a smooth shiny tongue of atrophic glossitis and a broad shuffling gait.
Cobalamin deficiency path
Homocystinemia due to impaired methionine re-synthesis.
Maturing erythrocytes lose the ability to synthesize heme when what happens…
When they lose their mitochondria