All issues > Volume 42(3); 1999

Original Article

J Korean Pediatr Soc. 1999;42(3):412-418. Published online March 15, 1999.

MELAS Syndrome Confirmed by Mitochondrial DNA Analysis in Siblings

Young Ghil YG Rah¹, Soo Ahn SA Chae¹, In Suk IS Lim¹, Dong Keun DK Lee¹, Byoung Hun BH Yoo¹, Tae Sung TS Ko², Han Wook HW Yoo²

¹Department of Pediatrics, College of Medicine, University of Chung Ang, Seoul, Korea
²Department of Pediatrics, College of Medicine, University of Ulsan, Seoul, Korea

Abstract

MELAS(mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) syndrome is a major subgroup of mitochondrial myopathy. Recent advances in molecular genetics revealed specific mutations in mitochondrial DNA which cause MELAS. We described here clinical and molecular genetic findings of sister and brother with MELAS syndrome. For molecular genetic studies, DNAs from peripheral blood nucleated cells were used. And the substitution of adenine to guanine at the nucleated position 3243 in the mitochondrial tRNALeu(UUR) gene was confirmed in the patients. Their mother was a heteroplasmic pattern which supports maternal transmission.

Keywords :MELAS syndrome, Mitochondrial DNA, tRNALeu(UUR) gene point mutation