Genetics of inclusion‐body myositis

@article{Needham2007GeneticsOI,
  title={Genetics of inclusion‐body myositis},
  author={Merrilee Needham and Frank L Mastaglia and Michael J. Garlepp},
  journal={Muscle \& Nerve},
  year={2007},
  volume={35}
}
Sporadic inclusion‐body myositis (sIBM) is the most common acquired muscle disease in Caucasians over the age of 50 years. Pathologically it is marked by inflammatory, degenerative, and mitochondrial changes that interact in a yet‐unknown way to cause progressive muscle degeneration and weakness. The cause of the disease is unknown, but it is thought to involve a complex interplay between environmental factors, genetic susceptibility, and aging. The strongest evidence for genetic susceptibility… 
Sporadic inclusion body myositis: the genetic contributions to the pathogenesis
TLDR
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.
Sporadic inclusion body myositis: variability in prevalence and phenotype and influence of the MHC.
  • F. Mastaglia
  • Biology, Medicine
    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
  • 2009
TLDR
Recent observations indicate that the clinical phenotype at presentation is also quite variable and that the influence of the MHC is more complex than previously appreciated with HLA alleles also having modifying effects on the age-at-onset, severity and rate of progression of the disease.
Investigating novel therapeutic approaches for sporadic inclusion body myositis (sIBM)
TLDR
The results of this Thesis show that β-APP over-expression in vitro recapitulates many of the characteristic features of sIBM and can be used successfully to screen potential therapies.
Genetic advances in sporadic inclusion body myositis
TLDR
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.
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TLDR
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.
Advances in inclusion body myositis: genetics, pathogenesis and clinical aspects
TLDR
Understanding the aetiopathogeneis is vital to identify future treatment targets, and understanding the natural history and the roles of biomarkers including the anti-CN1a antibody is vital for designing future clinical trials in IBM.
Genetic Investigations of Sporadic Inclusion Body Myositis and Myopathies with Structural Abnormalities and Protein Aggregates in Muscle
TLDR
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.
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.
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