Mutation loads in different tissues from six pathogenic mtDNA point mutations
In this work, we studied the mtDNA mutations m.3243A > G, m.3252A > G, m.15923A > G, m.13513G > A, m.8993T > G and m.9176T > Cm the blood, urine and buccal mucosa of a cohort of 27 subjects. Urine cells had the highest mutation load for all of the mtDNA mutations studied. The mutat...
| Autores: | , , , , , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2015 |
| País: | España |
| Institución: | Fundació Sant Joan de Déu |
| Repositorio: | r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu |
| OAI Identifier: | oai:fsjd.fundanetsuite.com:p7503 |
| Acceso en línea: | https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7503 |
| Access Level: | acceso abierto |
| Palabra clave: | Mitochondrial DNA point mutations Mutation load Urine MELAS Mitochondrial diseases |
| Sumario: | In this work, we studied the mtDNA mutations m.3243A > G, m.3252A > G, m.15923A > G, m.13513G > A, m.8993T > G and m.9176T > Cm the blood, urine and buccal mucosa of a cohort of 27 subjects. Urine cells had the highest mutation load for all of the mtDNA mutations studied. The mutation loads in the blood, urine and the buccal mucosa were significantly higher in the mitochondrial disorder group that manifested clinical signs than in the asymptomatic subjects. In conclusion, urine is a suitable biological sample for molecular diagnosis of mtDNA mutations and for the study of the attendant risk of recurrence in the offspring of asymptomatic mothers identified as non-carriers after mutation analysis in blood. (C) 2015 Elsevier B.V. and Mitochondria Research Society. All rights reserved. |
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