mechanisms of disease final review

cholera _ toxin _ to _, _ leaves & attaches ADP ribose to _, increasing cAMP

AB; endocytosed; ER; A subunit; GTPase

homocysteine

byproduct of methionine breakdown

issues with homocysteine

aggregation, iron & copper reduction

Glu → Val in 6th a.a. of β globin

sickle cell disease mutation

hydroxyurea

stimulates fetal γ globin

crizanlizumab (adakveo)

antibody that blocks p-selectins

voxelotor (oxbryta)

discontinued, reduced aggregation of sickled hemoglobin

CF: in sweat duct, Na⁺ & Cl⁻ _ fails → salty sweat

symport

CF: in lungs, Cl⁻ _/Na⁺ _ antiport fails → mucus dehydration

out; in

trikafta

elexacaftor, ivacaftor, & tezneaftor

stromal reactive cells

vascular, lymphatic, & inflammatory

tumor contains neoplastic _ cells

parenchymal

sarcoma

connective tissue

carcinoma

epithelial tissue

HER2

growth factor receptor

RAS

G-proteins that stimulate MAPK & PI3K/AKt cell growth pathways

MYC

chromosomal translocation next to immunoglobin gene

cyclin-dependent kinase

cell cycle molecule

RAS mutation

most common hallmark of human cancers

cyclin-dependent kinase mutation

melanoma

MYC activation via chromosomal translocation

burkitt’s lymphoma

warburg effect

cancer cells show increased glycolysis

cancer cells can degrade matrix by producing proteolytic enzymes or

stimulating stromal cells to do so

TGF-β

immunosuppressive

in alzheimer’s, _ fails

α-secretase

early onset alzheimer’s due to mutations in APP and/or

presenilin (part of γ secretase complex)

tau

microtubule-association axon protein

in alzheimer’s, tau redistributes to _, hyper_, & aggregates

dendrites; phosphorylates

brain inflammation

microglial cells & astrocytes

neuritic plaque diameter

20 - 200 μm

α-synuclein

lipid-binding protein that aggregates in parkinson’s

hereditary parkinson’s

mutations in mitochondrial proteins

parkin

mitochondrial ubiquitin kinase, normally clears damaged mitochondria by autophagy

lewy bodies

inclusions packed with aggregated α-synuclein