Abstract
Mitochondrial disorders have notoriously variable clinical presentations, particularly in children. A growing number of reports describe mutations in the mitochondrial DNA (mtDNA)-encoded subunits of complex I (EC 1.6.5.3) causing early-onset encephalopathy. Here, we describe two Korean siblings with childhood-onset progressive generalized dystonia and one Korean child with strokelike episodes in infancy; all three had bilateral lesions of the basal ganglia and partial deficiencies of complex I. Analysis of their mtDNA revealed a novel heteroplasmic m.10197G>A mutation (A47T) in the ND3 (NADH dehydrogenase subunit 3) gene. This study underscores the importance of screening mtDNA-encoded respiratory chain structural genes, including ND3, in pediatric patients with unexplained encephalopathies.
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Abbreviations
- COX:
-
cytochrome c oxidase
- mtDNA:
-
mitochondrial DNA
- ND3:
-
NADH dehydrogenase subunit 3
- SDH:
-
succinate dehydrogenase
- SSV:
-
strongly SDH-positive blood vessel
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Acknowledgements
The authors thank Hua-Bin Huang and Saba Tadesse for skillful technical assistance.
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This work was supported by the Korea Research Foundation Grant (KRF-2005-E00024) and by grants from the National Institutes of Health (P01NS11766), Muscular Dystrophy Association, and Marriott Mitochondrial Disorders Clinical Research Fund.
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Chae, J., Lee, J., Kim, K. et al. A Novel ND3 Mitochondrial DNA Mutation in Three Korean Children With Basal Ganglia Lesions and Complex I Deficiency. Pediatr Res 61, 622–624 (2007). https://doi.org/10.1203/pdr.0b013e3180459f2d
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DOI: https://doi.org/10.1203/pdr.0b013e3180459f2d
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