Week 3

Question 1

Type 0 disease

Answer 1

Glycogen Synthase
Fasting hypoglycemia, no glycogen in liver, ketone bodies
Feeding = lactic acidosis and hyeprglycemia

Question 2

Type I disease

Answer 2

Glucose 6 Phosphatase

Fasting hypoglycemia, hepatomegaly, increase in glycogen

Question 3

Type II disease

Answer 3

Lysosomal alpha Glucosidase
Infantile death, 2 years
Enzyme therapy

Question 4

Type III disease

Answer 4

Debranching enzyme
Glycogen with short outer chains
Hypoglycemia

Question 5

Type IV disease

Answer 5

Branching enzyme

Dead, glycogen not soluble

Question 6

Type V disease

Answer 6

Muscle Phosphorylase
McArdle’s Syndrome
Weakness/cramping after exercise, can’t use muscle glycogen for energy

Question 7

Type VI disease

Answer 7

Liver phosphorylase
Her disease
Fasting hypoglycemia
Hepatomegaly

Question 8

Type VII disease

Answer 8

PFK-1
Tauri syndrome
Exercise intolerance, weakness/cramping

Question 9

Type XI disease

Answer 9

Glut II mutation
Fanconi-Bickel
Glycogen accumulation in liver/kidney, glucosuria, hypoglycemia

Question 10

Glycine 25

Answer 10

Close association between B and E helices

Without Gly25 –> association couldn’t happen

Question 11

Aspartate 94

Answer 11

Salt link w/ imidazole of His 146

Question 12

Tyrosine 145

Answer 12

Hydroxyl group bond w/ Valine 98

Question 13

Histidine 146

Answer 13

Carboxyl forms salt link with alpha chain Lysine 40

Terminal amino acid

Question 14

Histidine 92

Answer 14

Covalent bond with Fe and steric repulsion creates non planar formation

O2 binding makes planar

Question 15

2,3 Bisphosphoglycerate

Answer 15

Stabilizes Hb in T state –> less O2 affinity
4 negative charges, attracted to 6 positive Hb charges
Less affinity to HbF (Serine replaces His 146)

Question 16

Band 3

Answer 16

Anion exchange protein in RBC

HCO3- for Cl-

Question 17

Epigenetic Regulation: DNA level

Answer 17

Cytosine methylation

Question 18

Epigenetic Regulation: Histone Level

Answer 18

1. Histone acetylation
2. Histone Methylation
3. Histone Phosphorylation
4. Histone ubiquitilation
5. Histone combinations

Question 19

Histone acetylation

Answer 19

HAT’s

Open up chromatin and allow transcription

Question 20

Histone Deacetylation

Answer 20

HDAC’s

Pack chromatin and shield from transcription factors

Question 21

Histone Phosphorylation

Answer 21

Phosphorylated during mitosis

Phosphorylated by signal transduction pathways

Question 22

Prader Willi Syndrome

Answer 22

Micro deletion of paternally transmitted chromosome 15

Some genes in this region are maternally imprinted. Paternal deletion = no active genes = disease

Short stature, mental retardation, decreased muscle tone

Question 23

Angelman syndrome

Answer 23

Microdeletion of maternal chromosome 15

Paternally imprinted gene

Normal development 6-12 months
seizures, language defecit, motor/attention problems, disproportionate head growth

Question 24

Ehlers-Danlos Syndrome

Answer 24

Defects in Type I collagen gene, and post translational modifications

Skin hyperextensibility/fragility, joint hypermobility, tissue fragility, scarring

Question 25

Osteogenesis Imperfecta

Answer 25

Mutations in structural collagen gene Gly-X-Y change to Ala, Val, Ser Brittle bones, fractures, underdeveloped lungs

Question 26

Collagen structure: Primary sequence

Answer 26

Gly every third residue 15-20% proline 10% alanine 1-5% hydroxylysine

Question 27

Collagen structure: Minor helix

Answer 27

Type II or polyproline helix | 3 residues/turn

Question 28

Collagen Structure: Triple helix

Answer 28

3 Type II helices Stabilized by interchain H-bonding between Gly and Pro residues

Question 29

Collagen Structure: Tropocollagen

Answer 29

Post translational modification

Question 30

Hydroxylapatite

Answer 30

Inorganic phase of fibrils | 40nm gaps for nucleation points --> hydroxylapatite deposition and bone formation

Question 31

Proline and 4-hydroxyproline in Collagen

Answer 31

H-bonding stabilizes structure | Ascorbic acid needed for hydroxyproline