Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.
Mutations in genes coding for the dystrophin-glycoprotein complex (DGC) cause inherited muscular dystrophies (MD), including Morbus Duchenne (DMD) and M. Becker (BMB) as well as limb-girdle muscular dystrophies (LGMD). New insights into the pathophysiology of the dystrophic muscle, the identification of compensatory mechanisms and additional proteins interacting with dystrophin are essential for developing new treatments. In order to define molecular mechanisms induced by lack of dystrophin and the subsequent counter-regulatory transcriptional response of degenerating muscle fibres, we have investigated the mRNA expression of 19 functionally linked genes in biopsies of patients with MD by means of real time qRT-PCR. Our results define a uniform transcriptional profile of the dystrophic muscle characterized by degeneration and regeneration. Several genes encoding structural proteins appear remarkably highly expressed.
Human Genetics, Ruhr-University, Universitätsstrasse 150, 44801 Bochum, Germany.
Larissa
L
Arning
Peter
P
Jagiello
Ulrike
U
Schara
Matthias
M
Vorgerd
Norbert
N
Dahmen
Alexandra
A
Gencikova
Wilhelm
W
Mortier
Jörg T
JT
Epplen
Martin
M
Gencik
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D020869:Gene Expression Profiling; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D018709:Statistics, Nonparametric; D014158:Transcription, Genetic
D016189:Dystrophin; D006023:Glycoproteins; D012333:RNA, Messenger