Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA-targeted next-generation sequencing
Journal of Genetic Medicine
;
: 109-117, 2015.
Article
in English
| WPRIM
| ID: wpr-195762
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 ANDMETHODS:
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
DNA, Mitochondrial
/
Leigh Disease
/
Classification
/
MERRF Syndrome
/
Mitochondrial Diseases
/
Diagnosis
Type of study:
Diagnostic study
Limits:
Humans
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2015
Type:
Article
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