Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation
Abstract Background The vision loss in Leber hereditary optic neuropathy patients is due to mitochondrial DNA mutations. No treatment has shown a clear-cut benefit on a clinically meaningful end-point. However, clinical evidences suggest two therapeutic approaches: the reduction of the mutation load...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2019-06-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-019-1128-z |
| _version_ | 1828486981132222464 |
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| author | Sonia Emperador Ester López-Gallardo Carmen Hernández-Ainsa Mouna Habbane Julio Montoya M. Pilar Bayona-Bafaluy Eduardo Ruiz-Pesini |
| author_facet | Sonia Emperador Ester López-Gallardo Carmen Hernández-Ainsa Mouna Habbane Julio Montoya M. Pilar Bayona-Bafaluy Eduardo Ruiz-Pesini |
| author_sort | Sonia Emperador |
| collection | DOAJ |
| description | Abstract Background The vision loss in Leber hereditary optic neuropathy patients is due to mitochondrial DNA mutations. No treatment has shown a clear-cut benefit on a clinically meaningful end-point. However, clinical evidences suggest two therapeutic approaches: the reduction of the mutation load in heteroplasmic patients or the elevation of mitochondrial DNA amount in homoplasmic patients. Results Here we show that ketogenic treatment, in cybrid cell lines, reduces the percentage of the m.13094 T > C heteroplasmic mutation and also increases the mitochondrial DNA levels of the m.11778G > A mitochondrial genotype. Conclusions These results suggest that ketogenic diet could be a therapeutic strategy for Leber hereditary optic neuropathy. |
| first_indexed | 2024-12-11T09:42:50Z |
| format | Article |
| id | doaj.art-f5c5e3f025cc435a950d03ee8e232879 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-11T09:42:50Z |
| publishDate | 2019-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-f5c5e3f025cc435a950d03ee8e2328792022-12-22T01:12:38ZengBMCOrphanet Journal of Rare Diseases1750-11722019-06-011411610.1186/s13023-019-1128-zKetogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutationSonia Emperador0Ester López-Gallardo1Carmen Hernández-Ainsa2Mouna Habbane3Julio Montoya4M. Pilar Bayona-Bafaluy5Eduardo Ruiz-Pesini6Departamento de Bioquímica, Biología Molecular y Celular, Universidad de ZaragozaDepartamento de Bioquímica, Biología Molecular y Celular, Universidad de ZaragozaDepartamento de Bioquímica, Biología Molecular y Celular, Universidad de ZaragozaDepartamento de Bioquímica, Biología Molecular y Celular, Universidad de ZaragozaDepartamento de Bioquímica, Biología Molecular y Celular, Universidad de ZaragozaDepartamento de Bioquímica, Biología Molecular y Celular, Universidad de ZaragozaDepartamento de Bioquímica, Biología Molecular y Celular, Universidad de ZaragozaAbstract Background The vision loss in Leber hereditary optic neuropathy patients is due to mitochondrial DNA mutations. No treatment has shown a clear-cut benefit on a clinically meaningful end-point. However, clinical evidences suggest two therapeutic approaches: the reduction of the mutation load in heteroplasmic patients or the elevation of mitochondrial DNA amount in homoplasmic patients. Results Here we show that ketogenic treatment, in cybrid cell lines, reduces the percentage of the m.13094 T > C heteroplasmic mutation and also increases the mitochondrial DNA levels of the m.11778G > A mitochondrial genotype. Conclusions These results suggest that ketogenic diet could be a therapeutic strategy for Leber hereditary optic neuropathy.http://link.springer.com/article/10.1186/s13023-019-1128-zMitochondrial DNALeber hereditary optic neuropathyKetogenic diet |
| spellingShingle | Sonia Emperador Ester López-Gallardo Carmen Hernández-Ainsa Mouna Habbane Julio Montoya M. Pilar Bayona-Bafaluy Eduardo Ruiz-Pesini Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation Orphanet Journal of Rare Diseases Mitochondrial DNA Leber hereditary optic neuropathy Ketogenic diet |
| title | Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation |
| title_full | Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation |
| title_fullStr | Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation |
| title_full_unstemmed | Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation |
| title_short | Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation |
| title_sort | ketogenic treatment reduces the percentage of a lhon heteroplasmic mutation and increases mtdna amount of a lhon homoplasmic mutation |
| topic | Mitochondrial DNA Leber hereditary optic neuropathy Ketogenic diet |
| url | http://link.springer.com/article/10.1186/s13023-019-1128-z |
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