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Flashcards in Block 1 - Review Deck (22):
1

What is Marfan's Syndrome?

Mutation in fribrillin gene, affecting formation/skeleton of elastin
Arachnodactyly (Long, gangly fingers)
Cardiac problems (mitrovalve prolapse)
Hyperextensibility of Joints
Autosomal dominant

2

What are general features of Ehler-Danlos syndrome?

General group of inherited disorders involving problems in collagen synthesis in CT
Hyperelasticity of skin
Abnormal tissue fragility
Increased joint mobility

3

What is the most severe type of Ehler-Danlos syndrome? Why?

Type IV ED.
Spontaneous rupture of arteries of bowel

4

What type of collagen does Type IV Ehler-Danlos affect?

Type III collagen (reticular fibers)

5

What is type VI Ehler-Danlos caused by? What are two major symptoms?

Lysel Hydroxylase deficiency
Joint hypermobility and Ocular rupture

6

What are characteristic symptoms of Ehler-Danlos Type VIIC?

Procollagen N-proteinase deficiency
Abnormal thin, irregular collagen fibrils
Hyper joint mobility

7

What fibers does Alport syndrome affect? What is a classic symptom?

Type IV
Hematuria (blood in urine)
May develop ends-stage renal disease due to renal basal membrane abnormality

8

What are 3 genetic disorders affecting collagen synthesis?

Ehler-Danlos
Alport Syndrome
Scurvy

9

What causes impaired collagen synthesis in patients with Scurvy?

Vitamin C deficiency is a cofactor for activity of prolyl and lysyl hydroxylase. Without it, they won't work. With a supplement, the hydroxylases will resume working.

10

What are major symptoms of scurvy?

Bleeding gums, hemorrhages, and poor wound healing

11

What are two types of carbohydrate addition to AA?

O-glycosylation (serine, theonine, tyrosine)
N-Glycosylation (asparginine)

12

What are three types of lipid addition to AA?

Palmitoylation (Internal SH of cystine)
Myristoylation (NH terminal of Glycine)
Prenylation (SH of cysteine)

13

What are three types of regulation modification of AA?

Phophorolation, Acetylation, and ADP-ribosylation

14

What is phosphorylation and which amino acids can it affect?

Phosphate group added to OH group of serine, theonine, and tyrosine

15

What are the two non-grouped modifications that can occur on AA?

Oxidation of proline and lysine
Carboxylation of glutamate

16

What type of bond is planar?

Peptide bond

17

What type of protein structure are motifs and domains?

Secondary structure

18

What forces, other than hydrogen bonds, are seen in tertiary structure?

Salt Bridges
Van der waal forces
Hydrophobic interactions
Disulfide bridges

19

What is chromatography used for? What are two necessary phases?

Relative affinity separation (size, ion exchange, hydrophobic, ligand specific, pressure)
Stationary and mobile phases

20

What are characteristics of electrophoresis?

Separate based on charge

21

What does Iso-ectric focusing (IEF) separate molecules by?

pH

22

What is key feature of Edman's sequencing?

N-terminal reaction to remove end amino acid for identification