Biochem Disease

Question 1

Osteogenesis imperfecta

Answer 1

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

Question 2

Prader willi Syndrome

Answer 2

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

Question 3

Angelmans Syndrome

Answer 3

Maternal Allele not expressed chrome 15
-genetic imprinting

Happy Puppet
Mental retard, siezure, ataxia, inappropriate laughter

Question 4

I cell disease MOA and symptoms

Answer 4

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

Question 5

Tay Sachs Disease MOA and symptoms

Answer 5

hexosaminidase A activity in the lysosome and ganglioside accumulation

Question 6

Niemann Pick Disease

Answer 6

springomeylinase activity in lysosome, no degradation of springomeylin

Question 7

Hurler Disease

Answer 7

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

Question 8

Lesch Nyhan presentation

Answer 8

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

Question 9

Lesch Nyhan cause

Answer 9

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

Question 10

Adensosine Deaminase Deficiency

Answer 10

SCID
Defect in purine salvage
Auto recessive

Question 11

Von Gierke’s Disease - problem and symptoms (3)

-Type 1

Answer 11

Deficient Glucose 6 phosphase -> can’t leave the liver

Severe fasting hypoglycemia,
High glycogen stores and hepatomegaly,
high blood lactate levels

Question 12

Pompe’s Disease - problem and symptoms (2)

Type II

Answer 12

Deficient Lysosomal alpha 1-4 glucosidase -> breaks off 1 C at a time of glycogen - lysosomal storage problem

Cardiomegaly,
systemic findings and early death

Question 13

Cori’s disease - problem and symptoms

Type III

Answer 13

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

Question 14

McArdle Disease - problem and symptoms
Type V

What is missing?

Answer 14

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

Question 15

I cell disease deficiency in?

Presentation(5)

Answer 15

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

Question 16

G1-S regulators(2)

Answer 16

Cyclin D and CDK4

Cyclin E and CDK 2

Question 17

G2-M regulators (2)

Answer 17

Cyclin A and CDK2

Cyclin B and CDK 1

Question 18

E2F is what ?

Regulated by

Answer 18

a TF that is bound by Rb.

Phosphorylation allows release and transcription

Question 19

Tumor regulator examples (5)

Answer 19

p53
p21
p27
p57
Rb

Question 20

Ubiquition role?

Answer 20

Heat shock protein used to mark proteins for degradation in proteasome

Question 21

plamalogens

Answer 21

important phospholipid found in myelin made in peroxisome

other peroxisome functions

• beta oxidation of FA
• oxidase and catalase for metabolizing ethanol

Question 22

Kartageners syndrome(4)

Answer 22

primary ciliary dyskinesia - dyenin defect

infertility
sinusitis
bronchiectasis
50% situs inversus

Question 23

Drugs associated w/ microtubules (5)

Answer 23

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

Question 24

Enzyme implicated in lead poisoning

2

Answer 24

alpha aminolevulinic acid dehydratase
-ALA dehyrdatase
ferrochelatase

See microcytic anemia, hypochromic, and basophilic stippling w/ retained RNA in RBCs

Question 25

Glactosemia due to?

Presentation(4)

Answer 25

absence of galactose 1 phosphate uridyltransferase; can’t make galactose 1P -> glucose 1 p

Failure to thrive, jaundice, hepatomegaly, cataracts and mental retardation

Question 26

Chediak higashi syndrome defect?

and presentation?(3)

Answer 26

mutation in lysosomal trafficking regulator LYST -> used for microtubule dependent sorting of endosomal proteins

immunodeficiency syndrome

-> pyrogenic infections, partial albinism and peripheral neuropathy

Question 27

High cholesterol in a cell membrane ->

2

Answer 27

decreased fluidity - too much

increases melting temperature

Question 28

2 examples of common metaplasia

Answer 28

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

Smoking - trachea ciliated columnar cells -> squamous cell

Question 29

lipofuscin

Answer 29

wear and tear molecules seen in cells

yellow brown inclusions due to free radical induced lipid oxidation

Question 30

Telomerase and cancer?

Answer 30

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

Question 31

Atrophy is?

Due to

Answer 31

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