| A Pediatric Case of MELAS Syndrome Associated with Insulin-dependent Diabetes Mellitus |
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Kyung Ran Park1, Hye Won Park2, Tae Sung Ko3, Hae Il Cheong1, Sei Won Yang1, Young Seung Hwang1, In Won Kim4, Je Geun Chi5 |
1Department of Pediatrics, Seoul National University, College of Medicine, Seoul, Korea
2Department of Pediatrics, Baramae Hospital, Seoul, Korea
3Department of Pediatrics, College of Medicine, University of Ulsan, Seoul, Korea
4Department of Diagnostic Radiology, Seoul National University, College of Medicine, Seoul, Korea
5Department of Pathology, Seoul National University, College of Medicine, Seoul, Korea |
| MELAS 증후군 환아에서 발생한 인슐린 의존성 당뇨병 1례 |
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박경란1, 박혜원2, 고태성3, 정해일1, 양세원1, 황용승1, 김인원4, 지제근5 |
1서울대학교 의과대학 소아과학교실
2보라매병원 소아과
3서울 중앙병원 소아과
4서울대학교 의과대학 진단방사선과학교실
5서울대학교 의과대학 병리학교실 |
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| Abstract |
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MELAS(mitochondrial myopathy, encephalopathy, lactic acidosis, and sroke like episodes) is a
major subgroup of heterogeneous mitochondrial encephalopathy. Recent advances in molecular
genetics revealed specific mutations in the mitochondrial DNA causing MELAS. We described
clinical and molecular genetic findings of a 13-year-old boy with MELAS syndrome associated
IDDM(insulin dependent diabetes mellitus). For molecular genetic studies, DNAs from peripheral
blood nucleated cells were used. And the A→G substitution at the nt position 3,243 in the
mitochodrial tRNAleu(UUR) gene in a heteroplasmic fashion was confirmed in the patient and
his mother, which supporting maternal transmission. The mother had no neuromuscular syndromes
but was diabetic. The islet cell antibody was abscent in both the patient and his mother, proving
an indirect evidence of β cell destruction was caused by the definite mitochondrial DNA itself.
The association of MELAS syndrome and IDDM has been reported very rarely, and this is the
first case report in Korea. |
| Key Words:
MELAS, IDDM, mitochondrial DNA |
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