Gene expression profiling in dysferlinopathies using a dedicated muscle microarray

Authors: Y.K. Hayashi1; S. Campanaro2; G. Valle2; C. Romualdi2; C. Angelini3; M. Fanin3; G. Lanfranchi2; B. Celegato2; B. Pacchioni2; S. Trevisan2; P. Laveder2; C. de Pittà2; E. Pegoraro3

Source: Human Molecular Genetics, Volume 11, Number 26, 15 December 2002 , pp. 3283-3298(16)

Publisher: Oxford University Press

Key:
Free Content - Free Content
New Content - New Content
Subscribed Content - Subscribed Content
Free Trial Content - Free Trial Content

Abstract:

We have performed expression profiling to define the molecular changes in dysferlinopathy using a novel dedicated microarray platform made with 3prime-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.

Document Type: Original article

Affiliations: 1: Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan 2: CRIBI Biotechnology Centre and Dipartimento di Biologia and 3: Dipartimento di Scienze Neurologiche e Psichiatriche, Università degli Studi di Padova, Padova, Italy and

The full text electronic article is available for purchase. You will be able to download the full text electronic article after payment.

$48.47 plus tax      Refund Policy

 

OR

Back to top

Key:
Free Content - Free Content
New Content - New Content
Subscribed Content - Subscribed Content
Free Trial Content - Free Trial Content
Share this item with others: These icons link to social bookmarking sites where readers can share and discover new web pages.
Page Help Click here for Page Help
Shopping cart
Tools
Sign in






Need to register?
Sign up here
Text size: A | A | A | A