biochemistry Flashcards
ADPKD
AD
85% of cases have mutation in PKD1 - chr 16
rest PKD2 - chr 4
familial adenomatous polyposis
AD
mutation on chr. 5q (APC gene)
familial hypercholesterolemia
AD
elevated LDL due to defective or absent LDL receptor
results in severe atherosclerotic disease early in life, corenal arcus, tendon xanthomas (esp. achilles tendon)
hereditary hemorrhagic telangiectasia (aka Osler-Weber-Rendu syndrome)
AD branching skin lesions (telangiectasias recurrent epistaxis skin discolorations AVMs GI bleeding hematuria
Hereditary spherocytosis
AD
spectrin or ankyrin
hemolytic anemia
huntington disease
AD
chr. 4
Li-Fraumeni syndrome
AD
abnormalities in TP53 => multiple malignancies at an early age
esp. sarcoma, breast, leukemia, adrenal gland
Marfan
AD
FBNI gene mutation on chr. 15 => defective fibrin = scaffold for elastin
affects skeleton, heart and eyes
tall with long extremities pectus excavatum hypermobile joints long tapering fingers and toes cystic medial necrosis of aorta floppy mitral valve subluxation of lenses, typically upward and temporally
MEN
AD
MEN1 = MEN1 gene
MEN2 = RET gene
neurofibromatosis type 1 (aka von Recklinghausen disease)
AD chr 17 NF1 gene cafe au lait spots cutaneous neurofibromas optic gliomas pheo lisch nodules (pigmented iris hamartomas) 100% penetrance, variable expression
neurofibromatosis type 2
AD NF2 on chr. 22 bilateral aucoustic schwannomas juvenile cataracts meningiomas ependymomas
tuberous sclerosis
AD
numerous benign hamartomas
incomplete penetrance
variable expression
von Hippel-Lindau disease
AD
deletion of VHL gene on chr. 3p
albinism
AR
cystic fibrosis
AR
CFTR on chr. 7 - usually Phe508
gylcogen storage diseases
AR
hemochromatosis
AR
Kartagener syndrome
AR
mucopolysaccharidoses
AR
except hunter syndrome
phenylketonuria
AR
sickle cell anemia
AR
sphigolipidoses
AR
except Fabry disease
thalassemias
AR
Wilson disease
AR
chr. 13
Bruton agammaglobulinemia
XR
Wiskott-Aldrich syndrome
XR
Fabry disease
XR
G6PD
XR
Ocular albinism
XR
Lesch-Nyhan
XR
Duchenne (and Becker) muscular dystrophies
XR
Hunter Syndrome
XR
Hemophilia A and B
XR
Ornithine transcarbamylase deficiency
XR
renal cell carcinoma
chr. 3
cri-du-chat syndrome
chr. 5
Williams syndrome
chr. 7
Freidrich ataxia
chr. 9
Wilms tumor
chr. 11
Patau syndrome
chr. 13
Prader-Willi
chr. 15
Angelman
chr. 15
ADPKD (PKD1)
chr. 16
Edwards syndrome
chr. 18
DiGeorge Syndrome
chr. 22 22q11
Kleinfelter syndrome
XXY
glycolysis RLE
phosphofructokinase-1 (PFK-1)
+ = AMP, fructose-2,6-bisphosphate
- = ATP, citrate
gluconeogenesis RLE
fructose-1,6-bisphospatase
+ = ATP, acetyl-CoA
- = fructose-2,6-bisphospate
TCA cycle RLE
isocitrate dehydrogenase
+ = ADP
- = ATP, NADH
glycogenesis RLE
glycogen synthase
+ = glucose-6-phosphate, insulin, cortisol
- = epinephrine, glucagon
glycogenolysis RLE
glycogen phosphorylase
+ = epinephrine, glucagon, AMP
- = glucose-6-phosphate, insulin, ATP
HMP shunt RLE
glucose-6-phosphate dehydrogenase (G6PD)
+ = NADP+
- = NADPH
De novo pyrimidine synthesis RLE
carbamoyl phosphate synthetase II
+ = ATP
- = UTP
de novo purine synthesis RLE
glutamine-phosphoribosylpurophosphate transferase (PRPP)
- = AMP, inosine monophosphate (IMP), GMP
urea cycle RLE
carbamoyl phosphate synthetase I
+ = N-acetylglutamate
fatty acid synthesis RLE
acetyl-CoA carboxylase (ACC)
+ = insulin, citrate
- = glucagon, palmitoyl-CoA
Fatty acid oxidation RLE
carnitine acyltransferase I
- = malonyl-CoA
ketogenesis RLE
HMG-CoA synthase
cholesterol synthesis RLE
HMG-CoA reductase
+ = insulin, thyroxine
- = glucagon, cholesterol
Atp carries
Phosphoryl groups
Nadh, nadph, and fadh2 carry
Electrons
Coa and lipoamide carry
Acyl groups
Biotin carries
Co2
Tetrahydrofolates carry
1-carbon groups
S-adenosylmethionine (SAM) carries
CH3 groups
TPP carries
Aldehydes
