Mutation loads in different tissues from six pathogenic mtDNA point mutations

O''Callaghan,M. M. ; Emperador,S. ; Pineda,M. ; López-Gallardo,E. (Universidad de Zaragoza) ; Montero,R. ; Yubero,D. ; Jou,C. ; Jimenez-Mallebrera,C. ; Nascimento,A. ; Ferrer,I. ; García-Cazorla,A. ; Ruiz-Pesini,E. ; Montoya,J. (Universidad de Zaragoza) ; Artuch,R.

Resumen: 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.

Idioma: Inglés

DOI: 10.1016/j.mito.2015.03.001

Año: 2015

Publicado en: MITOCHONDRION 22 (2015), 17-22
ISSN: 1567-7249

Factor impacto JCR: 3.647 (2015)

Categ. JCR: GENETICS & HEREDITY rank: 48 / 166 = 0.289 (2015) - Q2 - T1
Categ. JCR: CELL BIOLOGY rank: 78 / 187 = 0.417 (2015) - Q2 - T2

Factor impacto SCIMAGO: 1.804 - Molecular Medicine (Q1) - Cell Biology (Q2) - Molecular Biology (Q2)

Tipo y forma: Article (PostPrint)

Área (Departamento): Area Histología (Dpto. Anatom.Histolog.Humanas)
Área (Departamento): Área Bioquímica y Biolog.Mole. (Dpto. Bioq.Biolog.Mol. Celular)