Biochem Disease Flashcards
Osteogenesis imperfecta
Genetic bone disease
- usually type 1 collagen(glycine proline rich)
See:
Fractures, bue sclera, hearing loss, dental issues
Prader willi Syndrome
Paternal Allele not Expressed chrome 15
- genetic imprinting
Mental retard, hyperphagia, obesity, hypogonad, hypotonia
Angelmans Syndrome
Maternal Allele not expressed chrome 15
-genetic imprinting
Happy Puppet
Mental retard, siezure, ataxia, inappropriate laughter
I cell disease MOA and symptoms
phosphotransferase activity in golgi apparatus
-mannose 6 phosphate to lysome proteins failure
See: coarse facial features. clouded corneas, restricted joint movement and high plasma lysosomal enzymes
Tay Sachs Disease MOA and symptoms
hexosaminidase A activity in the lysosome and ganglioside accumulation
Niemann Pick Disease
springomeylinase activity in lysosome, no degradation of springomeylin
Hurler Disease
iduronidase activity in the lysosome, dermatan sulfate and heparan sulfate accumulation
Lesch Nyhan presentation
retardation, self mutilation (fingers), aggression, hyperuricemia, gout
Lesch Nyhan cause
X linked recessive
Defect in purine salvage due to faulty HGPRT
- no conversion of hypoxanthine to IMP and Guanine to GMP
See excess monosodium urate in
Adensosine Deaminase Deficiency
SCID
Defect in purine salvage
Auto recessive
Von Gierke’s Disease - problem and symptoms (3)
-Type 1
Deficient Glucose 6 phosphase -> can’t leave the liver
Severe fasting hypoglycemia,
High glycogen stores and hepatomegaly,
high blood lactate levels
Pompe’s Disease - problem and symptoms (2)
Type II
Deficient Lysosomal alpha 1-4 glucosidase -> breaks off 1 C at a time of glycogen - lysosomal storage problem
Cardiomegaly,
systemic findings and early death
Cori’s disease - problem and symptoms
Type III
Deficient debranching enzyme alpha 1, 6 gucosidase, can’t get rid of 1 C knob left over
Milder form of type 1,
normal lactate levels
McArdle Disease - problem and symptoms
Type V
What is missing?
Deficient muscle phosphorylase (myophosphorylase), catalyzes the phosphorolysis of 1,4 glucose residue - muscle glycogen unable to be released
increased glycogen in muscle, leading to painful cramps w/ exercise, myogloburia w/ extreme exercise (rhabdomyolysis - > red urine)
- NO increase in lactic acid
I cell disease deficiency in?
Presentation(5)
phosphotransferase
mannose 6 phosphate won’t be put on and lysosome enzymes in the serum from the golgi instead of lysosome
corneal clouding, coarse facies, hepatosplenomegaly, skeletal abnormalities, restricted joint movement
Death by age 8
G1-S regulators(2)
Cyclin D and CDK4
Cyclin E and CDK 2
G2-M regulators (2)
Cyclin A and CDK2
Cyclin B and CDK 1
E2F is what ?
Regulated by
a TF that is bound by Rb.
Phosphorylation allows release and transcription
Tumor regulator examples (5)
p53 p21 p27 p57 Rb
Ubiquition role?
Heat shock protein used to mark proteins for degradation in proteasome
plamalogens
important phospholipid found in myelin made in peroxisome
other peroxisome functions
- beta oxidation of FA
- oxidase and catalase for metabolizing ethanol
Kartageners syndrome(4)
primary ciliary dyskinesia - dyenin defect
infertility
sinusitis
bronchiectasis
50% situs inversus
Drugs associated w/ microtubules (5)
Bendiazoles - mebendazloe, albendazole
griseofulvin - antifungal
vincristine/vinblastine - block formation
paclitaxel/docetaxel - stabilize formation
colchicine
Enzyme implicated in lead poisoning
2
alpha aminolevulinic acid dehydratase
-ALA dehyrdatase
ferrochelatase
See microcytic anemia, hypochromic, and basophilic stippling w/ retained RNA in RBCs
Glactosemia due to?
Presentation(4)
absence of galactose 1 phosphate uridyltransferase; can’t make galactose 1P -> glucose 1 p
Failure to thrive, jaundice, hepatomegaly, cataracts and mental retardation
Chediak higashi syndrome defect?
and presentation?(3)
mutation in lysosomal trafficking regulator LYST -> used for microtubule dependent sorting of endosomal proteins
immunodeficiency syndrome
-> pyrogenic infections, partial albinism and peripheral neuropathy
High cholesterol in a cell membrane ->
2
decreased fluidity - too much
increases melting temperature
2 examples of common metaplasia
-reversible
Barrets esophegus: GERD -> squamous cell -> columnar
Smoking - trachea ciliated columnar cells -> squamous cell
lipofuscin
wear and tear molecules seen in cells
yellow brown inclusions due to free radical induced lipid oxidation
Telomerase and cancer?
normally off in somatic cells but w/ CA this extends telomeres allowing indefinite replications
Atrophy is?
Due to
Reduction in size or # of cells
fewer cell organelles -> decreased metabolic activity -> decreased protein synth -> protein degradation (upbiquitan -proteosome or free radical oxidation); autophagy
low: hormone, innervation, nutrient, blood flow,
Increased pressure of occlusion
