Analysis of mitochondrial DNA in several generations of the same family: implications for the differential diagnosis of mitochondrial disease

Abstract

Mitochondrial insufficiency does not always have vivid polysystemic manifestations that clinically reflect the dysfunction of these organelles. Diagnosis can be difficult both from a clinical and laboratory point of view. In this case, the authors describe a family with erased or not obvious corresponding clinical manifestations in 3 generations. Complete genomic assessment of mitochondrial DNA give enabled the authorsto identify inherited pathological changes. These findings are very important for understanding the molecular processes of mitochondrial disease development and the further development of specific therapy.