TY - JOUR T1 - Mutation in cytochrome b gene of mitochondrial DNA in a family with fibromyalgia is associated with NLRP3-inflammasome activation JF - Journal of Medical Genetics JO - J Med Genet SP - 113 LP - 122 DO - 10.1136/jmedgenet-2015-103392 VL - 53 IS - 2 AU - Mario D Cordero AU - Elísabet Alcocer-Gómez AU - Fabiola Marín-Aguilar AU - Tatyana Rybkina AU - David Cotán AU - Antonio Pérez-Pulido AU - José Miguel Alvarez-Suarez AU - Maurizio Battino AU - José Antonio Sánchez-Alcazar AU - Angel M Carrión AU - Ognjen Culic AU - José M Navarro-Pando AU - Pedro Bullón Y1 - 2016/02/01 UR - http://jmg.bmj.com/content/53/2/113.abstract N2 - 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. ER -