| MELAS Syndrome Confirmed by Mitochondrial DNA Analysis in Siblings |
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Young Ghil Rah1, Soo Ahn Chae1, In Suk Lim1, Dong Keun Lee1, Byoung Hun Yoo1, Tae Sung Ko2, Han Wook Yoo2 |
1Department of Pediatrics, College of Medicine, University of Chung Ang, Seoul, Korea
2Department of Pediatrics, College of Medicine, University of Ulsan, Seoul, Korea |
| 사립체 DNA 분석으로 진단된 남매간의 MELAS 증후군 |
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라영길1, 채수안1, 임인석1, 이동근1, 유병훈1, 고태성2, 유한욱2 |
1중앙대학교 의과대학 소아과학교실
2울산대학교 의과대학 서울중앙병원 소아과 |
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| Abstract |
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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. |
| Key Words:
MELAS syndrome, Mitochondrial DNA, tRNALeu(UUR) gene point mutation |
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