Sporadic inclusion body myositis: the genetic contributions to the pathogenesis

@article{Gang2014SporadicIB,
  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},
  year={2014},
  volume={9},
  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… 
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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…
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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.
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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.
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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.
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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.
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TLDR
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.
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References

SHOWING 1-10 OF 138 REFERENCES
Genetics of inclusion‐body myositis
TLDR
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
TLDR
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
TLDR
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.
TLDR
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
TLDR
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
TLDR
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
TLDR
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
TLDR
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
TLDR
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.
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