The 12th Invest in ME Conference, Part 1
OverTheHills presents the first article in a series of three about the recent 12th Invest In ME international Conference (IIMEC12) in London.
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Mutation in cytochrome b gene of mitochondrial DNA (mtCYB gene) in a family with fibromyalgia ....

Discussion in 'Other Health News and Research' started by pattismith, Sep 17, 2017.

  1. pattismith

    pattismith Senior Member

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    Mutation in cytochrome b gene of mitochondrial DNA in a family with fibromyalgia is associated with NLRP3-inflammasome activation.

    2016 Feb

    Abstract
    BACKGROUND:
    Fibromyalgia (FM) is a worldwide diffuse musculoskeletal chronic pain condition that affects up to 5% of the general population. Many symptoms associated with mitochondrial diseases are reported in patients with FM such as exercise intolerance, fatigue, myopathy and mitochondrial dysfunction. In this study, we report a mutation in cytochrome b gene of mitochondrial DNA (mtDNA) in a family with FM with inflammasome complex activation.

    METHODS:
    mtDNA from blood cells of five patients with FM were sequenced. We clinically and genetically characterised a patient with FM and family with a new mutation in mtCYB. Mitochondrial mutation phenotypes were determined in skin fibroblasts and transmitochondrial cybrids.

    RESULTS:
    After mtDNA sequence in patients with FM, we found a mitochondrial homoplasmic mutation m.15804T>C in the mtCYB gene in a patient and family, which was maternally transmitted. Mutation was observed in several tissues and skin fibroblasts showed a very significant mitochondrial dysfunction and oxidative stress. Increased NLRP3-inflammasome complex activation was observed in blood cells from patient and family.

    CONCLUSIONS:
    We propose further studies on mtDNA sequence analysis in patients with FM with evidences for maternal inheritance. The presence of similar symptoms in mitochondrial myopathies could unmask mitochondrial diseases among patients with FM. On the other hand, the inflammasome complex activation by mitochondrial dysfunction could be implicated in the pathophysiology of mitochondrial diseases.

    https://www.ncbi.nlm.nih.gov/pubmed/26566881
     
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  2. pattismith

    pattismith Senior Member

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    http://www.neurology.org/content/88/16_Supplement/P5.077


    Mitochondrial Skeletal and Cardiac Myopathy Responsive to Aggressive Immunosuppression in Rapidly Progressing Systemic Sclerosis
    (a case report 2017)

    "A 32-year-old man with exercise-induced muscle cramps and a maternal family history of depression, fibromyalgia and “hypochondria”, presented with fulminant non-ischemic cardiac failure necessitating AICD, followed by rapid development of skeletal muscle atrophy, fasciculations and weakness, rendering him wheelchair-bound"...
    "Muscle strength and endurance improved significantly by at least 1 MRC grade after methylprednisolone and Rituximab. Cyclosporine and IVIG were added to his regimen. Molecular mitochondrial analysis and repeat echocardiogram are pending...."
    "Conclusion: Perivascular epimysial inflammation is rarely seen in any disease. Mitochondrial myopathy without myositis has not been reported in systemic sclerosis. We propose that ischemia caused by vasculopathy and fibrosis in systemic sclerosis, together with subclinical mitochondrial pathology, severely affected skeletal and cardiac muscle due to their high metabolic demands. An unusual presentation of myopathy in autoimmune disease suggests an underlying latent pathology, such as mitochondrial myopathy. Rapidly progressing autoimmune disease necessitates aggressive immunosuppression."

    unfortunatly in that case, I couldn't find anything about the mitoD mutation...
     
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