title: Sporadic inclusion body myositis: the genetic contributions to the pathogenesis.
abstract: 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.
authors.affiliation: Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK. q.gang@ucl.ac.uk.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Gang
authors.forename: Conceição
authors.initials: C
authors.lastname: Bettencourt
authors.forename: Pedro
authors.initials: P
authors.lastname: Machado
authors.forename: Michael G
authors.initials: MG
authors.lastname: Hanna
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
mesh_terms: D006801:Humans; D018979:Myositis, Inclusion Body / Q000235:genetics* / Q000503:physiopathology