Accelerated expansion of pathogenic mitochondrial DNA heteroplasmies in Huntington’s disease

• DOI: 10.1073/pnas.2014610118
• Publication Date: 2021-07-23T21:00:23Z
• Authors: Yiqin Wang; Xiaoxian Guo; Kaixiong Ye; Michael Orth; Zhenglong Gu
• Keywords: 0301 basic medicine; Biological Sciences; DNA, Mitochondrial; Oxidative Phosphorylation; Mitochondria; 3. Good health; 03 medical and health sciences; Huntington Disease; Case-Control Studies; Genome, Mitochondrial; Humans; Longitudinal Studies; Lymphocytes

Significance Decline of mitochondrial function may underlie the pathogenesis many age-related diseases, such as Huntington’s disease (HD). Mitochondrial oxidative phosphorylation (OXPHOS) system is encoded partially by genome (mtDNA). By investigating mtDNA in lymphoblast and blood samples HD patients, we found that expansion OXPHOS-impairing heteroplasmies (coexistence mutated wild-type mtDNA) a molecular feature associated with functional, motor, cognitive aspects progression, suggesting improving quality or restoring could be potential target for treatments.