J Genet Med.  2015 Dec;12(2):109-117. 10.5734/JGM.2015.12.2.109.

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

  • 1Department of Biological Sciences, Kongju National University, Gongju, Korea. kwchung@kongju.ac.kr
  • 2Department of Neurology and Neuroscience Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. bochoi77@hanmail.net
  • 3Department of Neurology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.


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.
Whole mtDNAs were sequenced by the method of mtDNA-targeted next-generation sequencing (NGS).
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.
This study suggests that mtDNA-targeted NGS will be helpful for the molecular diagnosis of genetically heterogeneous mitochondrial diseases with complex phenotypes.


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