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 > C in 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 mut...

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Detalles Bibliográficos
Autores: O''Callaghan,M. M., Emperador,S., Pineda,M., López-Gallardo,E., Montero,R., Yubero,D., Jou,C., Jimenez-Mallebrera,C., Nascimento,A., Ferrer,I., García-Cazorla,A., Ruiz-Pesini,E., Montoya,J., Artuch,R.
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2015
País:España
Institución:Universidad de Zaragoza
Repositorio:Zaguán. Repositorio Digital de la Universidad de Zaragoza
OAI Identifier:oai:zaguan.unizar.es:150665
Acceso en línea:http://zaguan.unizar.es/record/150665
Access Level:acceso abierto
Descripción
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 > C in 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.

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