Biochem Disease Flashcards Preview

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Flashcards in Biochem Disease Deck (31):
1

Osteogenesis imperfecta

Genetic bone disease
- usually type 1 collagen(glycine proline rich)
See:
Fractures, bue sclera, hearing loss, dental issues

2

Prader willi Syndrome

Paternal Allele not Expressed chrome 15
- genetic imprinting
Mental retard, hyperphagia, obesity, hypogonad, hypotonia

3

Angelmans Syndrome

Maternal Allele not expressed chrome 15
-genetic imprinting

Happy Puppet
Mental retard, siezure, ataxia, inappropriate laughter

4

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

5

Tay Sachs Disease MOA and symptoms

hexosaminidase A activity in the lysosome and ganglioside accumulation

6

Niemann Pick Disease

springomeylinase activity in lysosome, no degradation of springomeylin

7

Hurler Disease

iduronidase activity in the lysosome, dermatan sulfate and heparan sulfate accumulation

8

Lesch Nyhan presentation

retardation, self mutilation (fingers), aggression, hyperuricemia, gout

9

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

10

Adensosine Deaminase Deficiency

SCID
Defect in purine salvage
Auto recessive

11

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

12

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

13

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

14

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

15

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

16

G1-S regulators(2)

Cyclin D and CDK4
Cyclin E and CDK 2

17

G2-M regulators (2)

Cyclin A and CDK2
Cyclin B and CDK 1

18

E2F is what ?

Regulated by

a TF that is bound by Rb.

Phosphorylation allows release and transcription

19

Tumor regulator examples (5)

p53
p21
p27
p57
Rb

20

Ubiquition role?

Heat shock protein used to mark proteins for degradation in proteasome

21

plamalogens

important phospholipid found in myelin made in peroxisome

other peroxisome functions
- beta oxidation of FA
-oxidase and catalase for metabolizing ethanol

22

Kartageners syndrome(4)

primary ciliary dyskinesia - dyenin defect

infertility
sinusitis
bronchiectasis
50% situs inversus

23

Drugs associated w/ microtubules (5)

Bendiazoles - mebendazloe, albendazole
griseofulvin - antifungal
vincristine/vinblastine - block formation
paclitaxel/docetaxel - stabilize formation
colchicine

24

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

25

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

26

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

27

High cholesterol in a cell membrane ->
(2)

decreased fluidity - too much
increases melting temperature

28

2 examples of common metaplasia

-reversible
Barrets esophegus: GERD -> squamous cell -> columnar

Smoking - trachea ciliated columnar cells -> squamous cell

29

lipofuscin

wear and tear molecules seen in cells

yellow brown inclusions due to free radical induced lipid oxidation

30

Telomerase and cancer?

normally off in somatic cells but w/ CA this extends telomeres allowing indefinite replications

31

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