Sporadic inclusion body myositis: the genetic contributions to the pathogenesis

  title={Sporadic inclusion body myositis: the genetic contributions to the pathogenesis},
  author={Qiang Gang and Conceiç{\~a}o Bettencourt and Pedro M. Machado and Michael G. Hanna and Henry Houlden},
  journal={Orphanet Journal of Rare Diseases},
  pages={88 - 88}
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… 
Ongoing Developments in Sporadic Inclusion Body Myositis
Sporadic inclusion body myositis (IBM) is an acquired muscle disorder associated with ageing, for which there is no effective treatment. Ongoing developments include: genetic studies that may provide
Sporadic inclusion body myositis: clinical, pathological, and genetic analysis of eight Polish patients.
This study provides the first - to the knowledge - comprehensive clinical, pathological, and genetic workup of a group of Polish patients with sporadic inclusion body myositis.
Genetic advances in sporadic inclusion body myositis
Advances in the genetics of sIBM over the past 2 years facilitated by the use of next-generation sequencing will be key tools to unravel the genetics and its contribution to disease aetiopathogenesis.
Genetic Investigations of Sporadic Inclusion Body Myositis and Myopathies with Structural Abnormalities and Protein Aggregates in Muscle
The collection of a large series of sIBM patients through the IIBMGC has been shown here to reveal important genetic findings and will be a valuable resource for the future.
Genetics in inclusion body myositis
The pathogenesis of IBM is likely multifactorial, including inflammatory and degenerative changes, and mitochondrial abnormalities, and there has been considerable progress in understanding of the genetic architecture of IBM, using complementary genetic approaches to investigate these different pathways.
Sporadic inclusion body myositis: new insights and potential therapy.
Despite improved knowledge, IBM continues to be a puzzling disease and the pathogenesis remains to be clarified and an interdisciplinary, bench to bedside translational research approach is crucial for the successful identification of novel treatments for this debilitating, currently untreatable disorder.
New developments in genetics of myositis
Large genetic studies in IIM have revealed much about the genetics of this rare complex disease both within the HLA region and genome-wide, and candidate gene studies in the Japanese and Chinese populations have replicated previous IIM associations which suggest common aetiology between ethnicities.
Immunohistochemical and ultrastructural analysis of sporadic inclusion body myositis: a case series
Using a combination of immunohistochemistry and electron microscopy methods, the correct final diagnosis ofporadic inclusion body myositis is established and a specific treatment is implemented to inhibit disease progression.
Immune‐Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA–DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum
This study conducted the largest genetic association study of the disease to date, investigating immune‐related genes using the Immunochip to determine genetic factors contributing to the etiology of IBM.
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis


Genetics of inclusion‐body myositis
Current understanding of the contribution of genetic susceptibility factors to the development of sIBM is summarized in this review.
Sporadic inclusion body myositis: Pathogenic considerations
A brief overview of the validity of the various controversial observations is examined and the justification for the two major hypotheses for the primary role of inflammation versus degeneration are critically reviewed.
Inclusion body myositis and myopathies
Pathogenesis and therapy of inclusion body myositis.
  • S. Greenberg
  • Medicine, Biology
    Current opinion in neurology
  • 2012
IBM remains a poorly understood muscle disease, although understanding of the pathophysiological mechanisms continues to expand and is supporting new therapeutic approaches.
Familial inflammatory inclusion body myositis.
Sporadic and familial inflammatory IBM share the same clinical, biological, MRI, and histological features.
Increase in number of sporadic inclusion body myositis (sIBM) in Japan
A retrospective survey of Japanese patients of sIBM diagnosed at the National Center of Neurology and Psychiatry (NCNP) finds that the prevalence of s IBM in Japan is 9.83 per million in 2003, suggesting an increase in the number of patients.
Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms
The basic hypothesis is that over-expression of amyloid-β precursor protein within aging muscle fibers is an early upstream event causing the subsequent pathogenic cascade.
Apolipoprotein E ϵ4 in inclusion body myositis
The frequency of the ϵ4 allele of apolipoprotein E (APO E) has been strongly associated with familial and late‐onset AD and data suggest that APO E genotype may be one of the factors involved in determining the predisposition to the development of IBM.
Mitochondrial and inflammatory changes in sporadic inclusion body myositis
It is hypothesized that accumulation of mitochondrial respiratory deficiency in muscle fibres may lead to fibre atrophy and degeneration, contributing to muscle mass reduction.
Molecular pathology and pathogenesis of inclusion‐body myositis
The basic hypothesis is that overexpression of AβPP within the aging muscle fibers is an early upstream event causing a subsequent pathogenic cascade that leads to sporadic inclusion‐body myositis.