the difference between
rough endoplastic reticulum(RER) and
smooth endoplastic reticulum(SER)RER→ synthesis of secretory proteins
mucus secreting goblet cells of the small intestine and ☆antibody secreting plasma cells are rich in RER
SER→ synthesis of steroid and detoxification of drugs and poisons
liver hepatocyts, adrenal cortex and gonads are rich in SER biochemistry HirotoShishido
how is fatty acid degradation regulatedmalonyl CoA inhibits carnithine acyltransferase,
preventing the transfer of acyl groups into the mitochondria biochemistryUWorld HirotoShishido
malignant phenylketonuria
what enzyme is absent?
why malignant?
complication?dihydrobiopterin redactase(catalyze the production of tetrahydrobiopterin(BH4))
refractory to tyrosine supplement
(treatment: BH4 supplementation, low phenylalanine diet)
alkaptonuria
what enzyme is absent? in which pathway?
findingshomogentisate oxidase
(catalyze the production of ¥maleylacetoacetic acid from homogentisic acid)
cystic fibrosis
mutation,diagnosis,complications,treatmentCFTR gene on chromosome 7
autosomal recessive
(CTFR codes Cl-channel secreting Cl in lung and GI tract, reabsorbing Cl in sweat glands)
☆misfolded CFTR membrane protein
↑Cl concentiation in pilocarpine induced sweat test
recurrent pulmonary infection,pancreatic insufficiency→malabsorption with steatorrhea(fat containing stool),meconium ileus in newborn,infertility,nasal polyps,digital clubbing
how Vit B12 is bound to intrinsic factorPancreatic proteases are secreted into the duodenum, where they split the R-protein/vitamin B12 complexes, producing vitamin B12 that is free to bind intrinsic factor to form intrinsic factor/vitamin B12 complexes. biochemistrygastrointestinal HirotoShishido
