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Molecular Genetic Diagnosis in Korean Patients with Myoclonic Epilepsy with Ragged Red Fiber(MERRF) Syndrome

Journal of the Korean Pediatric Society 1998;41(7):941-952.
Published online July 15, 1998.
Molecular Genetic Diagnosis in Korean Patients with Myoclonic Epilepsy with Ragged Red Fiber(MERRF) Syndrome
Tae-Sung Ko1, Sang-Ahm Lee2, Gheeyoung Choe3, Han-Wook Yoo1
1Department of Pediatrics, Asan Medical Center, College of Medicine, University of Ulsan, Seoul, Korea
2Department of Neurology, Asan Medical Center, College of Medicine, University of Ulsan, Seoul, Korea
3Department of Pathology, Seoul National University, College of Medicine, Seoul, Korea
Myoclonic Epilepsy with Ragged Red Fiber (MERRF) 증후군 환자의 분자유전학적 진단
고태성1, 이상암2, 최기영3, 유한욱1
1울산대학교 의과대학 서울중앙병원 소아과
2울산대학교 의과대학 서울중앙병원 신경과
3서울시립 보라매병원 병리과
Correspondence: 
Han-Wook Yoo, Email: 1
Abstract
Purpose
: Myoclonic epilepsy with ragged red fiber(MERRF) syndrome is a disease of the mitochondrial encephalomyopathies, characterized by progressive myoclonus(action), epilepsy, cerebellar ataxia, intention tremor, muscle weakness, progressive dementia, sensorineural hearing loss and optic atrophy. Its inheritance is maternally inherited mitochondrial mutation, and its pathologic finding is characterized by ragged red fibers(RRF). Biochemically its defects are diverse. This study was undertaken to investigate the pattern of mitochondrial mutation and characterize the clinical features in Korean patients with MERRF.
Methods
: We collected 3 clinically suspected MERRF patients from 2 Korean families who have progressive myoclonus, epilepsy, cerebellar ataxia, intention tremor, muscle weakness, progressive dementia etc. We reviewed their clinical findings, electrophysiologic studies, radiologic findings and pathologic findings, retrospectively. Of the 2 patients(case 1 and case 3) who had undergone muscle biopsy, case 1 showed RRF in modified Gomori trichrome staining, increased mitochondrial number and abnormal inclusion body in EM. To examine the pattern of mitochondrial mutation of these patients, molecular study was carried out in 3 patients, 2 mothers, 2 fathers, and 4 siblings. Their genomic DNAs were isolated from peripheral leukocytes, subsequent PCR-direct nucleotide sequencing and Ban II digestion were followed.
Results
: All mutations in our cases were A to G point mutations in the tRNALys gene at position 8344.
Conclusion
: We confirmed clinically suspected MERRF patients as MERRF and their mothers and siblings as carriers, on the basis of molecular genetic analysis. This study suggests that the molecular genetic analysis can be utilized to diagnose MERRF patients easily and confirm carriers, especially at the presymptomatic stage before the characteristic pathologic changes appear.
Key Words: MERRF syndrome, Mutation


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