SPECIAL TISSUES I Flashcards
collective term for materials outside the cell
functions as support for cells
extracellular matrix
major component of most connective tissue
most abundant structural protein in the body
there are 28 distinct types
collagen
intracellular steps in collagen synthesis
- H
- G
- DB
- THF
hydroxylation
glycation
disulfide bonding
triple helix formation
Keloid has an increase in the enzyme __________
prolyl hydroxylase
osteogenesis imperfecta causes a decrease in collagen type _____
type 1
in EDS type 4 there is problem in collagen type ___ and ___
type 3 and 4
EDS type 6 has a decrease in the enzyme: ___________
EDS type 6 lysl hydroxylase
EDS type 7
enzyme: ______
procollagen peptidase
in achondrodysplasia there is a decrease in type ____ collagen
Type 2
in epidemolysis bullosa there is a decrease of ________
anchoring fibrils
in Allport syndrome there is an antibody attacking your type ___ collagen
type 4 collagen
in menke’s diseases there is a defect in ____ transport
copper
is found in the skin and tissue of the body
protein in connective tissue that is elastic and allows many tissues in the body to resume their shape after stretching or contracting
protein that helps to keep our skin flexible but tight
elastin
deletion of elastin gene
manifestations:
looks old for their age
sagging skin
cutis laxa
excessive production of elastin
manifestations:
tightening of the skin
inability to move the skin
joints are tightened
scleroderma
large glycoprotein
secreted into the EM by fibroblast
found in lens, periosteum and aorta
fibrillin
diagnosis of marfan syndrome
diagnosis includes ____ and ____ signs
steinberg’s sign
walker murdoch sign
in glycosaminoglycans
GENERAL RULE:
All GAGs contain
sulfate except _____
sugar acid except _______
hyaluronic acid
keratan sulfate
the majority of GAGs in the body are linked to core proteins forming _______
proteoglycans
mutations in a gene encoding such as ___________ in the degradation of one or more GAGS
lysosomal hydrolase
in Hurler’s syndrome there is an enzymatic defect of alpha ________-
alpha-L-Iduronidase
in hunters syndrome there is a enzymatic defect: ___________
it is also ________ (only in males)
iduronate sulfatase
x-linked
in morquio syndrome
enzyme defect: __________
galactosamine-6-sulfatase or Beta Galactosidase
in Maroteaux Lamy
enzyme defect: _____________
N-acetylgalatosamine 4-sulfatase
