Flashcards in Block 1 - Review Deck (22):
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
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
What is the most severe type of Ehler-Danlos syndrome? Why?
Type IV ED.
Spontaneous rupture of arteries of bowel
What type of collagen does Type IV Ehler-Danlos affect?
Type III collagen (reticular fibers)
What is type VI Ehler-Danlos caused by? What are two major symptoms?
Lysel Hydroxylase deficiency
Joint hypermobility and Ocular rupture
What are characteristic symptoms of Ehler-Danlos Type VIIC?
Procollagen N-proteinase deficiency
Abnormal thin, irregular collagen fibrils
Hyper joint mobility
What fibers does Alport syndrome affect? What is a classic symptom?
Hematuria (blood in urine)
May develop ends-stage renal disease due to renal basal membrane abnormality
What are 3 genetic disorders affecting collagen synthesis?
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.
What are major symptoms of scurvy?
Bleeding gums, hemorrhages, and poor wound healing
What are two types of carbohydrate addition to AA?
O-glycosylation (serine, theonine, tyrosine)
What are three types of lipid addition to AA?
Palmitoylation (Internal SH of cystine)
Myristoylation (NH terminal of Glycine)
Prenylation (SH of cysteine)
What are three types of regulation modification of AA?
Phophorolation, Acetylation, and ADP-ribosylation
What is phosphorylation and which amino acids can it affect?
Phosphate group added to OH group of serine, theonine, and tyrosine
What are the two non-grouped modifications that can occur on AA?
Oxidation of proline and lysine
Carboxylation of glutamate
What type of bond is planar?
What type of protein structure are motifs and domains?
What forces, other than hydrogen bonds, are seen in tertiary structure?
Van der waal forces
What is chromatography used for? What are two necessary phases?
Relative affinity separation (size, ion exchange, hydrophobic, ligand specific, pressure)
Stationary and mobile phases
What are characteristics of electrophoresis?
Separate based on charge
What does Iso-ectric focusing (IEF) separate molecules by?