Independent origin for m.3243A>G mitochondrial mutation in three Venezuelan cases of MELAS syndrome

Abstract

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multisystem and progressive neurodegenerative mitochondrial disease, caused by point nucleotide changes in the mtDNA where 80 % of cases have the mutation m.3243A>G in the MT-TL1 gene. In this work, we described the clinical, biochemical and molecular analysis of three Venezuelan patients affected with MELAS syndrome. All cases showed lactic acidosis, cortical cerebral atrophy on magnetic resonance imaging and muscular system deficit, and in two of the cases alteration of urine organic acid levels was also registered. A screening for the mutation m.3243A>G in different patients’ body samples confirmed the presence of this mutation with variable degrees of heteroplasmy (blood = 7–41 %, buccal mucosa = 14–53 %, urine = 58–94 %). The mitochondrial haplogroups for the three patients were different (H, C1b, and A2), indicating an independent origin for the mutation.