Researchers have detected mutations in mitochondrial DNA that are present in some patients diagnosed with fibromyalgia, which could cause maternal inheritance in some families.
This opens the way to clear up one of the great unknowns of fibromyalgia: if there is a family inheritance. In the study at the University of Seville , the researchers have worked with families of fibromyalgia patients and with patients suffering from mitochondrial diseases , such as Melas syndrome, Merrf syndrome and Leber’s disease. Mitochondrial diseases are caused by a defect in energy production within the body’s cells. That energy that every living being needs is produced within organelles contained in cells called mitochondria . Hence the name assigned to these ailments.
Fibromyalgia is a disease with a high incidence throughout the world. It is characterized by diffuse chronic pain , as well as a set of symptoms similar to those presented by mitochondrial diseases , such as exercise intolerance, muscle fatigue .
The investigation showed a mutation in mitochondrial DNA in a family , with a diagnosis of fibromyalgia with maternal inheritance. This mutation is responsible for the mitochondrial problems described in the patients.
In addition, the mutation present in the affected family was associated with the activation of the NLRP3-inflammasome complex, a complex that is also present in cells from patients with other diseases with mitochondrial mutations.
All the cells analyzed from the main patient in the study showed the aforementioned mutation in the mitochondrial DNA and the members of her family by maternal line (children, mother and siblings of the patient) experienced the same alteration. Added to all this is the fact that the researchers found that when the patient’s mitochondria were transplanted into healthy cells, they became ill.
The study could represent a new therapeutic success to investigate in mitochondrial diseases, since the inhibition in cells with mitochondrial mutations showed a significant improvement in them.