Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA-targeted next-generation sequencing.
10.5734/JGM.2015.12.2.109
- Author:
Hyun Dae HONG
1
;
Eunja KIM
;
Soo Hyun NAM
;
Da Hye YOO
;
Bum Chun SUH
;
Byung Ok CHOI
;
Ki Wha CHUNG
Author Information
1. Department of Biological Sciences, Kongju National University, Gongju, Korea. kwchung@kongju.ac.kr
- Publication Type:Original Article
- Keywords:
Leigh disease;
MERRF syndrome;
Mitochondrial DNA;
MT-ATP6;
Mitochondrially encoded tRNA lysine gene;
High-throughput nucleotide
- MeSH:
Classification;
Diagnosis;
DNA, Mitochondrial;
Humans;
Leigh Disease*;
MERRF Syndrome*;
Mitochondrial Diseases;
Phenotype
- From:Journal of Genetic Medicine
2015;12(2):109-117
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
