DYSFUNCTION OF THE MITOCHONDRIAL RESPIRATORY CHAIN, METHODS FOR DIAGNOSIS, TREATMENT AND FOLLOW-UP

摘要

The invention relates to a method, of assessing whether a subject is affected with or at risk for developing a dysfunction of the mitochondrial respiratory chain, the method comprising determining the concentration of fibroblast growth factor 21 (FGF21) in a biological sample from the subject, and comparing it to the concentration of FGF21 in a biological sample from at least one normal control, wherein an increase in the concentration of FGF21 in the biological sample from the subject when compared to the concentration of FGF21 in the biological sample from at least one normal control is indicative of occurrence of the dysfunction of the mitochondrial respiratory chain in said subject, or of risk for developing said dysfunction. The invention also relates to a method for follow-up of a dysfunction of the mitochondrial respiratory chain in a subject diagnosed with but not being treated for said dysfunction, to a method for treating a subject having a dysfunction of the mitochondrial respiratory chain, to a method for determining whether a dysfunction of the mitochondrial respiratory chain in a subject diagnosed with and being treated for said dysfunction is responding to the treatment, and for selecting patients for clinical trials.