Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNAtargeted next-generation sequencing

• 발행기관: 대한의학유전학회
• 저자명: Hyun Dae Hong Eunja Kim Soo Hyun Nam Da Hye Yoo Bum Chun Suh Byung-Ok Choi Ki Wha Chung
• 간행물 정보: 『대한의학유전학회지』제12권 제2호, 109~117쪽, 전체 9쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2015.12.31

영문 초록

Purpose: Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make their exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mitochondrial DNA (mtDNA) mutations in 2 Korean families with myoclonic epilepsy with ragged-red fibers (MERRF) and Leigh syndrome, respectively. Materials and Methods: Whole mtDNAs were sequenced by the method of mtDNA-targeted next-generation sequencing(NGS). Results: Two causative mtDNA mutations were identified from the NGS data. An m.8344A>G mutation in the tRNA-Lys gene(MT-TK ) was detected in a MERRF patient (family ID: MT132), and an m.9176T>C (p.Leu217Pro) mutation in the mitochondrial ATP6 gene (MT-ATP6) was detected in a Leigh syndrome patient (family ID: MT130). Both mutations, which have been reported several times before in affected individuals, were not found in the control samples. Conclusion: This study suggests that mtDNA-targeted NGS will be helpful for the molecular diagnosis of genetically heterogeneous mitochondrial diseases with complex phenotypes.

키워드

Leigh disease MERRF syndrome Mitochondrial DNA MT-ATP6 Mitochondrially encoded tRNA lysine gene High-throughput nucleotide