DMD - L2 Flashcards
1
Q
Topics?
A
dystrophin
dystrophin gene
DMD
diagnostic techniques
2
Q
What is dystrophin’s role?
A
-
3
Q
What are the domains of dystrophin?
A
N-ter actin binding domain
rod domain
cysteine rich domain
C-ter domain (DAPC binding)
4
Q
Dystrophin & calcium?
A
-
5
Q
Where is the dystrophin gene located?
A
Xp21
6
Q
How many exons does dystrophin have>
A
79 spanning 2.4megabases
7
Q
What percentage of mutations are de novo?
A
33%
8
Q
Isoforms of dystrophin?
A
l - skeletal
m - cardiac
c - smooth
p - brain
9
Q
Most common mutation?
A
deletion/insertions (~60%)
10
Q
What percentage is duplications?
A
5%
11
Q
Consequences of dystrophin mutations?
A
loss of DAPC - fragile sarcolemma absence of structural proteins membrane instability (calcium influx, apop, inflammation, fibrosis) signalling defects
12
Q
Diagnostic techniques?
A
MLPA (stand for?)
muscle biopsy
immunostaining
Western blotting
13
Q
Describe the MLPA process? What mutations can it pick up?
A
-
14
Q
Describe normal and dystrophic muscle histology
A
-
