Dowling, Paul and Culligan, Kevin and Ohlendieck, Kay
Distal mdx muscle groups exhibiting up-regulation of utrophin
and rescue of dystrophin-associated glycoproteins exemplify
a protected phenotype in muscular dystrophy.
Naturwissenschaften, 89 (2).
Unique unaffected skeletal muscle fibres, unlike
necrotic torso and limb muscles, may pave the way
for a more detailed understanding of the molecular pathogenesis
of inherited neuromuscular disorders and help to
develop new treatment strategies for muscular dystrophies.
The sparing of extraocular muscle in Duchenne
muscular dystrophy is mostly attributed to the special
protective properties of extremely fast-twitching smalldiameter
fibres, but here we show that distal muscles also
represent a particular phenotype that is more resistant to
necrosis. Immunoblot analysis of membranes isolated
from the well established dystrophic animal model mdx
shows that, in contrast to dystrophic limb muscles, the toe
musculature exhibits an up-regulation of the autosomal
dystrophin homologue utrophin and a concomitant rescue
of dystrophin-associated glycoproteins. Thus distal mdx
muscle groups provide a cellular system that naturally
avoids myofibre degeneration which might be useful in
the search for naturally occurring compensatory mechanisms
in inherited skeletal muscle diseases.
||Distal mdx; muscle groups; up-regulation; utrophin; dystrophin-associated glycoproteins; protected phenotype; muscular dystrophy;
||Faculty of Science and Engineering > Biology
||15 Aug 2016 16:05
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||Health Research Board (HRB), Enterprise Ireland (EI), Royal Society, London, Royal Irish Academy
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