Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation
Background and Purpose: Recent advances in molecular genetic testing have led to a rapid increase in the understanding of the genetics of Leigh syndrome. Several studies have suggested that Leigh syndrome with MT-ND3 mutation is strongly associated with epilepsy. This study focused on the epilepsy-r...
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Frontiers Media S.A.
2021-12-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2021.752467/full |
| _version_ | 1818723649101758464 |
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| author | Ji-Hoon Na Min Jung Lee Chul Ho Lee Young-Mock Lee Young-Mock Lee |
| author_facet | Ji-Hoon Na Min Jung Lee Chul Ho Lee Young-Mock Lee Young-Mock Lee |
| author_sort | Ji-Hoon Na |
| collection | DOAJ |
| description | Background and Purpose: Recent advances in molecular genetic testing have led to a rapid increase in the understanding of the genetics of Leigh syndrome. Several studies have suggested that Leigh syndrome with MT-ND3 mutation is strongly associated with epilepsy. This study focused on the epilepsy-related characteristics of Leigh syndrome with MT-ND3 mutation identified in a single tertiary hospital in South Korea.Methods: We selected 31 patients with mitochondrial DNA (mtDNA) mutations who were genetically diagnosed with mtDNA-associated Leigh syndrome. Among them, seven patients with MT-ND3 mutations were detected. We reviewed various clinical findings such as laboratory findings, brain images, electroencephalography data, seizure types, seizure frequency, antiepileptic drug use history, and current seizure status.Results: The nucleotide changes in the seven patients with the Leigh syndrome with MT-ND3 mutation were divided into two groups: m.10191T>C and m.10158T>C. Six of the seven patients were found to have the m.10191T>C mutations. The median value of the mutant load was 82.5%, ranging from 57.9 to 93.6%. No particular tendency was observed for the first symptom or seizure onset or mutant load. The six patients with the m.10191T>C mutation were diagnosed with epilepsy. Three of these patients were diagnosed with Lennox–Gastaut syndrome (LGS).Conclusion: We reported a very strong association between epilepsy and MT-ND3 mutation in Leigh syndrome, particularly the m.10191T>C mutation. The possibility of an association between the epilepsy phenotype of the m.10191T>C mutation and LGS was noted. |
| first_indexed | 2024-12-17T21:13:52Z |
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| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-17T21:13:52Z |
| publishDate | 2021-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-4163aa647dc64c71999652ba3b5bba6a2022-12-21T21:32:23ZengFrontiers Media S.A.Frontiers in Neurology1664-22952021-12-011210.3389/fneur.2021.752467752467Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point MutationJi-Hoon Na0Min Jung Lee1Chul Ho Lee2Young-Mock Lee3Young-Mock Lee4Department of Pediatrics, Yonsei University College of Medicine, Seoul, South KoreaDepartment of Pediatrics, Yonsei University College of Medicine, Seoul, South KoreaDepartment of Pediatrics, Yonsei University College of Medicine, Seoul, South KoreaDepartment of Pediatrics, Yonsei University College of Medicine, Seoul, South KoreaEpilepsy Research Institute, Yonsei University College of Medicine, Seoul, South KoreaBackground and Purpose: Recent advances in molecular genetic testing have led to a rapid increase in the understanding of the genetics of Leigh syndrome. Several studies have suggested that Leigh syndrome with MT-ND3 mutation is strongly associated with epilepsy. This study focused on the epilepsy-related characteristics of Leigh syndrome with MT-ND3 mutation identified in a single tertiary hospital in South Korea.Methods: We selected 31 patients with mitochondrial DNA (mtDNA) mutations who were genetically diagnosed with mtDNA-associated Leigh syndrome. Among them, seven patients with MT-ND3 mutations were detected. We reviewed various clinical findings such as laboratory findings, brain images, electroencephalography data, seizure types, seizure frequency, antiepileptic drug use history, and current seizure status.Results: The nucleotide changes in the seven patients with the Leigh syndrome with MT-ND3 mutation were divided into two groups: m.10191T>C and m.10158T>C. Six of the seven patients were found to have the m.10191T>C mutations. The median value of the mutant load was 82.5%, ranging from 57.9 to 93.6%. No particular tendency was observed for the first symptom or seizure onset or mutant load. The six patients with the m.10191T>C mutation were diagnosed with epilepsy. Three of these patients were diagnosed with Lennox–Gastaut syndrome (LGS).Conclusion: We reported a very strong association between epilepsy and MT-ND3 mutation in Leigh syndrome, particularly the m.10191T>C mutation. The possibility of an association between the epilepsy phenotype of the m.10191T>C mutation and LGS was noted.https://www.frontiersin.org/articles/10.3389/fneur.2021.752467/fullmitochondrial DNA-associated Leigh syndromeMT-ND3m10191T>CepilepsyLennox-Gastaut syndrome |
| spellingShingle | Ji-Hoon Na Min Jung Lee Chul Ho Lee Young-Mock Lee Young-Mock Lee Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation Frontiers in Neurology mitochondrial DNA-associated Leigh syndrome MT-ND3 m10191T>C epilepsy Lennox-Gastaut syndrome |
| title | Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation |
| title_full | Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation |
| title_fullStr | Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation |
| title_full_unstemmed | Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation |
| title_short | Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation |
| title_sort | association between epilepsy and leigh syndrome with mt nd3 mutation particularly the m 10191t c point mutation |
| topic | mitochondrial DNA-associated Leigh syndrome MT-ND3 m10191T>C epilepsy Lennox-Gastaut syndrome |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2021.752467/full |
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