Sporadic inclusion body myositis: the genetic contributions to the pathogenesis

Orphanet Journal of Rare Diseases

Henry Houlden¹  Michael G Hanna¹  Pedro Machado¹  Conceição Bettencourt²  Qiang Gang¹ 

[1] MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London WC1N 3BG, UK;Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK

关键词: Exome sequencing;    Genetics;    Genes;    IBM;    Inclusion body myopathy;    Inclusion body myositis;   

Others  :  861545
DOI  :  10.1186/1750-1172-9-88

 received in 2014-04-14, accepted in 2014-06-12,  发布年份 2014

【 摘 要 】

Sporadic inclusion body myositis (sIBM) is the commonest idiopathic inflammatory muscle disease in people over 50 years old. It is characterized by slowly progressive muscle weakness and atrophy, with typical pathological changes of inflammation, degeneration and mitochondrial abnormality in affected muscle fibres. The cause(s) of sIBM are still unknown, but are considered complex, with the contribution of multiple factors such as environmental triggers, ageing and genetic susceptibility. This review summarizes the current understanding of the genetic contributions to sIBM and provides some insights for future research in this mysterious disease with the advantage of the rapid development of advanced genetic technology. An international sIBM genetic study is ongoing and whole-exome sequencing will be applied in a large cohort of sIBM patients with the aim of unravelling important genetic risk factors for sIBM.

【 授权许可】

   
2014 Gang et al.; licensee BioMed Central Ltd.

【 图 表 】

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