MELAS Syndrome Confirmed by Mitochondrial DNA Analysis in Siblings.
- Author:
Young Ghil RAH
1
;
Soo Ahn CHAE
;
In Suk LIM
;
Dong Keun LEE
;
Byoung Hun YOO
;
Tae Sung KO
;
Han Wook YOO
Author Information
1. Department of Pediatrics, College of Medicine, University of Chung Ang, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
MELAS syndrome;
Mitochondrial DNA;
tRNALeu(UUR) gene point mutation
- MeSH:
Acidosis, Lactic;
Adenine;
DNA;
DNA, Mitochondrial*;
Guanine;
Humans;
MELAS Syndrome*;
Mitochondrial Myopathies;
Molecular Biology;
Mothers;
Muscular Diseases;
Siblings*
- From:Journal of the Korean Pediatric Society
1999;42(3):412-418
- CountryRepublic of Korea
- Language:Korean
-
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.
