期刊
MITOCHONDRION
卷 22, 期 -, 页码 17-22出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2015.03.001
关键词
Mitochondrial DNA point mutations; Mutation load; Urine; MELAS; Mitochondrial diseases
资金
- Instituto de Salud Carlos III [FIS-PI10/00662, PI14/00005, PI11/01301, PI11/02350, PI14/00028]
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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