P.59The mutations in mtDNA encoded NADH dehydrogenase subunit genes as common causes of MELAS

The number of molecular causes of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome has steadily increased. Among these, apart from the m.3243A>G mutation, the mutations in mtDNA encoded NADH dehydrogenase subunits genes (MT-ND) have also emerged as hotspot mutations. Herein we reported twelve patients harbored MT-ND mutations and the most common mutation was m.13513G>A in ND5. Additionally, we identified m.13046T>C mutation in ND5, m.10158T>C and m.10191T>C mutation in MT-ND3, m.11777A>C mutation in MT-ND4, m.14487T>C and m.14453G>A mutation in MT-ND6 respectively.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: K. Ji, C. Yan Source Type: research