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Gene expression profiling in dysferlinopathies using a dedicated muscle microarray

ABSTRACT: We have performed expression profiling to define the molecular changes in dysferlinopathy using a novel dedicated microarray platform made with 3’-end skeletal muscle cDNAs. Eight dysferlinopathy patients, defined by western blot, immunohistochemistry and mutation analysis, were investigated with this technology. The expression profiles of patients with different clinical traits were independently obtained and hierarchical clustering was applied to discover patient-specific gene variations. MHC class I genes and genes involved in protein biosynthesis were up-regulated in relation to muscle histopathological features. Conversely, the expression of genes codifying the sarcomeric proteins titin, nebulin and telethonin was down-regulated. Neither calpain-3 nor caveolin, a sarcolemmal protein interacting with dysferlin, was consistently reduced. There was a major up-regulation of proteins interacting with calcium, namely S100 calcium-binding proteins and sarcolipin, a sarcoplasmic calcium regulator. Keywords: Dysferlinopathies, limb-girdle muscular dystrophy type 2B,biopsy, cDNA microarray

ORGANISM(S): Homo sapiens

PROVIDER: GSE3022 | GEO | 2005/07/28

SECONDARY ACCESSION(S): PRJNA93207

REPOSITORIES: GEO

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