Clinical spectrum and diagnosis of mitochondrial disorders

Abstract

Respiratory chain deficiencies have long been regarded as neuromuscular diseases mostly originating from mutations in the mitochondrial DNA. Actually, oxidative phosphorylation, i.e., adenosine triphosphate (ATP) synthesis-coupled electron transfer from substrate to oxygen through the respiratory chain, does not only occur in the neuromuscular system. For this reason, a respiratory chain deficiency can theoretically give rise to any symptom, in any organ or tissue, at any age and with any mode of inheritance, owing to the dual genetic origin of respiratory chain enzymes (nuclear DNA and mitochondrial DNA). In recent years, it has become increasingly clear that genetic defects of oxidative ph..