6533b85ffe1ef96bd12c1c3d

RESEARCH PRODUCT

Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.

Larissa ArningNorbert DahmenWilhelm MortierMatthias VorgerdMartin GencikUlrike ScharaAlexandra GencikovaPeter JagielloJörg T. Epplen

subject

musculoskeletal diseasesAdultMaleAdolescentTranscription GeneticGene Expressionmedicine.disease_causeMuscular DystrophiesStatistics NonparametricDystrophinGenetic linkageGene expressionmedicineHumansRNA MessengerMuscular dystrophyChildGeneGlycoproteinsMutationbiologyReverse Transcriptase Polymerase Chain ReactionGene Expression ProfilingMusclesMiddle Agedmedicine.diseaseCell biologyGene expression profilingMuscular Dystrophy DuchenneNeurologyChild PreschoolMutationbiology.proteinFemaleNeurology (clinical)DystrophinNeuroscienceLimb-girdle muscular dystrophy

description

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.

yearjournalcountryeditionlanguage
2003-03-03Journal of neurology
10.1007/s00415-004-0274-xhttps://pubmed.ncbi.nlm.nih.gov/14999492