Biochem MC Flashcards
Most common saturated fatty acids present in the cell
Palmitic acid (C16) Stearic acid (C18)
Most common unsaturated fatty acids in the cell
Palmitoleic acid
Oleic acid
Arachidonic acid
Most common type of plasma membrane receptor
G protein-coupled receptors (GPCR, “heptahelical receptors”)
The most common gene disorder in the world
Thalassemia
Carrier state of ~7%
Most common cystic fibrosis mutation
3-bp deletion that causes the loss of phenylalanine at position 508
*this mutation is present in more than 70% of CFTR patients
Most common unsaturated, containing cis double bonds, fatty acids in the diet
Oleic ate acid
Linoleic acid
2 of the most common branched chain fatty acids in the diet
Phytanic acid
Pristanic acid
Which are degradation products of chlorophyll and, thus, are consumed in green vegetables
Remarks on phytanic acid
Multimethylated C20 fatty acid
First oxidized to pristanic acid using the a-oxidation pathway
The most common mutation leading to permanent neonatal diabetes
KCNJ11 gene, which encodes a subunit of the K+ ATP channel in various tissues, including the pancreas
*this is an activating mutation, which keeps the K+ ATP channel open, and less susceptible to ATP inhibition —> activation of Ca++ channel will not occur —> insulin secretion will be impaired
2nd most common sugar in the adult diet
Fructose
The most common inherited defect in urea cycle
OTC deficiency
Most common cuase of homocystinuria
Deficieny of cystathionine B-synthase
Most common porphyrin found in the body
Heme
Most comon enzyme deficiency in humans
Glucose-6-phosphate dehydrogenase deficiency
Most common form of SCID
X-linked SCID
T cells are not formed
B cells are not active
Mutation in the gene that encodes the y-chain of IL-2 receptor —> unable to activate JAK3 —> cells are unresponsive to growth cytokines
IL7: required for survival and proliferation of lymphoid progenitors, particularly T CELLS
IL: 15: important for the maturation and proliferation of NK cells
