MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES: P.314 Mitochondrial DNA mutant load in A3243G mutation and clinical correlation

Abstract

Mitochondrial DNA A3243G mutation is most common in Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). mtDNA heteroplasmy, i.e. mutant load may contribute to clinical disease severity yet not fully understood. We aimed to investigate the level of blood mtDNA A3243G mutant load in MELAS patients and its correlation with functional scale. Total 25 subject were recruited, who met MELAS clinical criteria, positive for mtDNA A3243G mutation and blood mtDNA mutant load analysis.