Clin rele of cell mem Flashcards
Integral membrane proteins?
firmly embedded in the membrane and stabilized by hydrophobic interactions with lipids.
–Polytopic Transmembrane proteins
-Include transporters, ion channels and receptors
Peripheral proteins?
loosely bound to membrane through electrostatic interactions with lipids or proteins
Lipid-anchored proteins?
tethered to membranes via covalent attachment to a lipid
Niemann-Pick Disease, what is and how does it happen?
deficiency in the activity of an enzyme called Acid Sphingomyelinase (A-SMase)
sphingomyelin accumulates
–Enlargement of liver (hepatomegaly)
–Enlargement of spleen (splenomegaly)
“cherry red spot”
Phosphatidylserine relevance?
marker for apoptosis, moves to outer leaflet
What is spur cell anemia?
-Type of hemolytic anemia
- Elevatedlevels of cholesterolbound to rbc membrane
- Decreases fluidity and flexibility of membrane
- Cause rbcs to break their membranes
What leads to cystinuria and what does it do?
defect in the transporterresponsible for uptake of dimeric amino acid Cystine, arginine, lysine, ornithine
Cystine crystals or stones in the kidney
renal cholic
Hartnup disease what is it?
- defect in a transporter for non-polar or neutral amino acids (tryptophan, etc)
- tryptophan is precursor for very important biomolecules such as serotonin, melatonin, and niacin
- failure to thrive, photodermatitis and photosensitivity, ataxia
what do cardiotonic drugs do?
-glycoside, inhibit Na+/K+-ATPase in cardiac myocytes
-impairs activity of Sodium Calcium Exchanger (NCX),
increase in Ca2+ in sarcoplasmic reticulum
- increases contractile force of cardiac muscle cells
- treat CHF
What is Cystic fibrosis?
mutation in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, defective CFTR protein
- buildup of Cl- inside the airway epithelial cells, increase in Na+
- water follows, thicker mucous in airways
