Gene expression profiling in dysferlinopathies using a dedicated muscle microarray

Stefano Campanaro, Chiara Romualdi, Marina Fanin, Barbara Celegato, Beniamina Pacchioni, Silvia Trevisan, Paolo Laveder, Cristiano De Pittà, Elena Pegoraro, Yukiko K. Hayashi, Giorgio Valle, Corrado Angelini, Gerolamo Lanfranchi

Research output: Contribution to journalArticlepeer-review


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. In a first experiment RNAs from different limb-girdle muscular dystrophy type 2B patients were pooled and compared with normal muscle RNA to characterize the general transcription pattern of this muscular disorder. Then the expression profiles of patients with different clinical traits were independently obtained and hierarchical clustering was applied to discover patient-specific gene variations. MHC classes I genes and genes involved in protein blosynthesis 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.

Original languageEnglish
Pages (from-to)3283-3298
Number of pages16
JournalHuman Molecular Genetics
Issue number26
Publication statusPublished - Dec 15 2002

ASJC Scopus subject areas

  • Genetics


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