RT Journal Article
SR Electronic
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
FD BMJ Publishing Group Ltd
SP 113
OP 122
DO 10.1136/jmedgenet-2015-103392
VO 53
IS 2
A1 Cordero, Mario D
A1 Alcocer-Gómez, Elísabet
A1 Marín-Aguilar, Fabiola
A1 Rybkina, Tatyana
A1 Cotán, David
A1 Pérez-Pulido, Antonio
A1 Alvarez-Suarez, José Miguel
A1 Battino, Maurizio
A1 Sánchez-Alcazar, José Antonio
A1 Carrión, Angel M
A1 Culic, Ognjen
A1 Navarro-Pando, José M
A1 Bullón, Pedro
YR 2016
UL http://jmg.bmj.com/content/53/2/113.abstract
AB 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.