Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027121 (myositis)
 4,538 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Genetic predisposition to development of the idiopathic inflammatory myopathies is probably multifactorial. Major histocompatibility complex associations with these diseases provide the strongest evidence for a genetic component. In Caucasoids, haplotypes marked by B8/DR3 are associated with each of the clinical subgroups, except mixed connective tissue disease (DR4). The strongest associations are with inclusion body myositis, polymyositis in the presence of anti-Jo-1, and with antibodies to PM-Scl in overlap syndromes. The underlying mechanisms of these associations are probably different. Unique major histocompatibility complex associations are seen with other myositis-associated autoantibodies. The association can vary between racial groups as can the type of autoantibody produced within a disease subgroup, perhaps reflecting different T cell receptor repertoires or different inducing agents. The mapping of a gene for one form of hereditary inclusion body myositis to chromosome 9p1-q1 provides a lead for the investigation of sporadic inclusion body myositis, as does the expanding knowledge of genetic factors in Alzheimer's disease. The demonstration of deletions of mitochondrial DNA in the muscle of patients with inclusion body myositis raises the question of their role in the pathogenesis of the disease.
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PMID:Genetics of the idiopathic inflammatory myopathies. 901 54

Dysferlin deficiency is being increasingly recognized in limb-girdle dystrophy and distal myopathy but its role in the development of muscle pathology is still poorly understood. For this purpose, 26 muscle biopsies from 25 dysferlinopathy patients were analysed by routine histochemistry and by immunohistochemistry with eight different antibodies, and scored for inflammatory response and type of cell infiltrate, fibre degeneration and regeneration, fibre type composition and severity of histopathological changes. In cases with an advanced-stage dystrophic pattern we observed type 1 fibre predominance exceeding 80%, suggesting a selective loss of type 2 fibres or a conversion process. The extent of muscle fibre regeneration and degeneration in dysferlinopathy was intermediate between sarcoglycanopathy and Duchenne dystrophy or myositis, suggesting a rather aggressive course of the disease. An increased inflammatory response was observed in the majority of our patients (16/26), who also showed an active dystrophic pattern. Type and localization of cellular infiltrates suggest that inflammatory reaction is secondary to necrosis. Major histocompatibility complex (MHC) class I molecules were overexpressed in dysferlinopathy, mainly in association with fibre phagocytosis and regeneration; their occasional expression in non-necrotic fibres might represent a marker of ongoing necrosis. Muscle inflammation might be triggered by the structurally altered membrane consequent to dysferlin defect.
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PMID:Muscle pathology in dysferlin deficiency. 1244 62