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

Mario D. Cordero, Elísabet Alcocer-Gómez, Fabiola Marín-Aguilar, Tatyana Rybkina, David Cotán, Antonio Pérez-Pulido, José Miguel Alvarez-Suarez, Maurizio Battino, José Antonio Sánchez-Alcazar, Angel M. Carrión, Ognjen Culic, José M. Navarro-Pando, Pedro Bullón

Producción científica: Contribución a una revistaArtículorevisión exhaustiva

29 Citas (Scopus)

Resumen

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.

Idioma originalInglés
Páginas (desde-hasta)113-122
Número de páginas10
PublicaciónJournal of Medical Genetics
Volumen53
N.º2
DOI
EstadoPublicada - 2016
Publicado de forma externa

Huella

Profundice en los temas de investigación de 'Mutation in cytochrome b gene of mitochondrial DNA in a family with fibromyalgia is associated with NLRP3-inflammasome activation'. En conjunto forman una huella única.

Citar esto