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Mutation in cytochrome b gene of mitochondrial DNA in a family with fibromyalgia is associated with NLRP3-inflammasome activation
  1. Mario D Cordero1,2,
  2. Elísabet Alcocer-Gómez3,4,
  3. Fabiola Marín-Aguilar1,
  4. Tatyana Rybkina5,
  5. David Cotán3,4,
  6. Antonio Pérez-Pulido3,
  7. José Miguel Alvarez-Suarez6,
  8. Maurizio Battino7,
  9. José Antonio Sánchez-Alcazar3,4,
  10. Angel M Carrión5,
  11. Ognjen Culic8,
  12. José M Navarro-Pando9,
  13. Pedro Bullón1,2
  1. 1IBiS Institute of Biomedicine of Seville, University Hospital Virgen del Rocío-CSIC-University of Seville, Sevilla, Spain
  2. 2Research Laboratory, Oral Medicine Department, University of Sevilla, Sevilla, Spain
  3. 3Centro Andaluz de Biología del Desarrollo (CABD), Universidad Pablo de Olavide-CSIC-Junta de Andalucía, Sevilla, Spain
  4. 4Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Sevilla, Spain
  5. 5División de Neurociencias, Universidad Pablo de Olavide de Sevilla, Sevilla, Spain
  6. 6Escuela de Medicina Veterinaria y Zootecnia, Facultad de Ciencias de la Salud, Universidad de Las Américas, Quito, Ecuador
  7. 7Dipartimento di Scienze Cliniche Specialistiche ed Odontostomatologiche—Sez. Biochimica, Università Politecnica delle Marche, Ancona, Italy
  8. 8Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia
  9. 9Unidad de Reproducción Humana y Cirugía Endoscópica, Instituto para el Estudio de la Biología de la Reproducción Humana (INEBIR), Sevilla, Spain
  1. Correspondence to Dr Mario D Cordero, IBiS Institute of Biomedicine of Seville, Universidad de Sevilla, C/Calle Antonio Maura Montaner s/n, Sevilla 41013, Spain; mdcormor{at}


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.

  • Muscle disease
  • Immunology (including allergy)

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