Biochemistry 2

Question 1

What is the mnemonic for the 4 different types of collagen?

Answer 1

Be (So Totally) Cool, Read Books.

I: Bone, Skin, Tendons
II: carTWOlage
III: Reticulin: skin, blood vessels, uterus, fetal tissue, granulation tissue
IV: Basement membrane (Type FOUR under the FLOOR.)

Question 2

What is the difference between Northern, Southern and Western blots?

Answer 2

Southern: DNA
Northern: RNA
Western: Protein

“SNoW DRoP”

Question 3

What is the pneumonic for X-linked recessive diseases?

Answer 3

“Be Weasley, For GOLD Best Helps Selfish HOminids.”

Bruton agammaglobulinemia
Wiskott-aldrich
Fabry
G6PD
Ocular albinism
Lesch-nyhan
Duchenne muscular dystrophy
Becker muscular dystrophy
Hunters Syndrome
Hemophilia A and B
Ornithine transcarbamylase deficiency

Question 4

Tell me about Duchenne muscular dystrophy.

Answer 4

• X-linked, frameshift mutation leads to truncated dystrophin protein
• fibrofatty replacement of muscle fibers (pseudohypertrophy)
• weakness… Gower maneuver: pts can’t get out of chair without use of arms
• cardiomyopathy is common cause of death

Question 5

Tell me about Becker.

Answer 5

• similar to Duchenne, but point mutation instead of frameshift
• less severe Duchenne

Question 6

Tell me about myotonic type I.

Answer 6

• CTG trinucleotide repeat expansion of DMPK gene.
• abnormal expression of protein kinase
• myotonia, muscle wasting, frontal balding, cataracts, testicular atrophy, and arrhythmia

Question 7

Tell me about Fragile X.

Answer 7

• CGG repeat
• FMR1 gene is methylated
• long face, big balls, mental retardation, mitral valve prolapse

Question 8

What is the mnemonic to help remember the trinucleotide repeats?

Answer 8

“X-Girlfriend’s First Aid Helped Ace My Test.”

• fragile X: cGg
• Friedrich ataxia: gAa
• Huntington: cAg
• Myotonic dystrophy: cTg

Question 9

What is “CATCH-22” and which disease have what?

Answer 9

Cleft palate
Abnormal facies
Thymus aplasia
Cardiac defects
Hypocalcemia (bc of parathyroid)
22q11 deletion

DiGeorge: T, C, H
Velocardiofacial: C, A, C

Question 10

What drugs attack microtubules?

Answer 10

“Microtubules Get Constructed Very Poorly.”

• Mebendazole: anti-helminthic
• Griseofulvin: anti-fungal
• Colchicine: anti-gout
• Vincristine/Vinblastine: anti-cancer
• Paclitaxel: anti-cancer

Question 11

Branched-chain alpha-ketoacid dehyrogenase, pyruvate and alpha-ketoglutarate dehydrogenase require which coenzymes?

Answer 11

“Tender Loving Care For Nancy.”

Thiamine pyrophosphate
Lipoate
Coenzyme A
FAD
NAD

Question 12

Familial dyslipidemia type I: hyperchylomicronemia

Answer 12

AR. Lipoprotein lipase deficient or altered apolipoprotein C-II.

Blood: increased chylomicrons, TG, cholesterol

Pancreatitis, hepatosplenomegaly, and eruptive/pruritic xanthomas (no risk for atherosclerosis).

Question 13

Familial dyslipidemia type II: familial hypercholesterolemia.

Answer 13

AD. Absent or defective LDL receptors.

Blood: increased LDL, cholesterol

Heterozygotes = 300mg/dL. Homozygotes = 700+mg/dL

Accelerated atherosclerosis (MI at young age), tendon xanthomas, and corneal arcus.

Question 14

Familial dyslipidemia type IV: hypertriglyceridemia

Answer 14

AD.

Hepatic overproduction of VLDL. Causes pancreatitis.