Biochem 81 Flashcards
Inheritance pattern of Ehlers-Danlos?
may be autosomal dominant or recessive
Ehlers-Danlos is associated with what?
1) Berry or aortic aneurysm
2) Joint dislocation
3) Organ rupture
The classical type of Ehler’s Danlos has what type of symptoms and is caused by a mutation in which collagen?
- joint and skin symptoms
- type V collagen
The vascular type of Ehler’s Danlos has what type of symptoms and is caused by a mutation in which collagen?
vascular and organ rupture
type III collagen
What is Menke’s disease?
Connective tissue disease caused by impaired copper absorption and transport
Menke’s disease leads to decreased activity of which enzyme?
Lysyl Oxidase
(copper is necessary cofactor
What are the signs of Menke’s disease?
Brittle, “kinky” hair
Growth retardation
Hyotonia
Elastin is found where?
1) Skin
2) Lungs
3) Large arteries
4) Elastic ligaments
5) Vocal chords
6) Ligamenta flava (connect vertebra)
Elastin molecules are rich in what?
Proline and Glycine in NONhydroxylated forms
Cross linking of elastin takes place where?
Extracellularly
Elastin is broken down by what? Which is normally inhibited by what?
Elastase
Alpha 1-antitrypsin
Wrinkles of aging are due to what?
Decreased collagen and elastin PRODUCTION
Marfan syndrome is caused by a defect in fibrillin, which is what?
a glycoprotein that forms a sheath around elastin
PCR is used for what?
Amplification of a DNA fragment
PCR is used as a diagnostic tool in what?
Neonatal HIV
Herpes encephalitis
