Journal Article

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 and Gerolamo Lanfranchi

in Human Molecular Genetics

Volume 11, issue 26, pages 3283-3298
Published in print December 2002 | ISSN: 0964-6906
Published online December 2002 | e-ISSN: 1460-2083 | DOI:
Gene expression profiling in dysferlinopathies using a dedicated muscle microarray

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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 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.

Journal Article.  12153 words.  Illustrated.

Subjects: Genetics and Genomics

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