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KMID : 1189120150120020109
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대한의학유전학회지
2015 Volume.12 No. 2 p.109 ~ p.117
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Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA-targeted next-generation sequencing
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Hong Hyun-Dae
Kim Eun-Ja
Nam Soo-Hyun
Yoo Da-Hye
Suh Bum-Chun
Choi Byung-Ok
Chung Ki-Wha
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Abstract
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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.
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KEYWORD
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Leigh disease, MERRF syndrome, Mitochondrial DNA, MT-ATP6, Mitochondrially encoded tRNA lysine gene, High-throughput nucleotide
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