Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA

Habbane, M. ; Llobet, L. (Universidad de Zaragoza) ; Bayona-Bafaluy, M.P. (Universidad de Zaragoza) ; Bárcena, J.E. ; Ceberio, L. ; Gómez-Díaz, C. ; Gort, L. ; Artuch, R. ; Montoya, J. (Universidad de Zaragoza) ; Ruiz-Pesini, E. (Universidad de Zaragoza)

Resumen: BACKGROUND: Leigh syndrome (LS) is a serious genetic disease that can be caused by mutations in dozens of different genes. METHODS: Clinical study of a deafness pedigree in which some members developed LS. Cellular, biochemical and molecular genetic analyses of patients'' tissues and cybrid cell lines were performed. RESULTS: mitochondrial DNA (mtDNA) m.1555A>G/MT-RNR1 and m.9541T>C/MT-CO3 mutations were found. The first one is a well-known pathologic mutation. However, the second one does not appear to contribute to the high hearing loss penetrance and LS phenotype observed in this family. CONCLUSION: The m.1555A>G pathological mutation, accompanied with an unknown nuclear DNA (nDNA) factor, could be the cause of the phenotypic manifestations in this pedigree.

Idioma: Inglés

DOI: 10.3390/genes11091007

Año: 2020

Publicado en: Genes 11, 9 (2020), 11091007 [9 pp]
ISSN: 2073-4425

Factor impacto JCR: 4.096 (2020)

Categ. JCR: GENETICS & HEREDITY rank: 65 / 175 = 0.371 (2020) - Q2 - T2

Factor impacto SCIMAGO: 1.337 - Genetics (clinical) (Q2) - Genetics (Q2)

Financiación: info:eu-repo/grantAgreement/ES/DGA/B33-17R
Financiación: info:eu-repo/grantAgreement/ES/DGA-FEDER/Construyendo Europa desde Aragón
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00166
Financiación: info:eu-repo/grantAgreement/ES/ISCIII-FIS/PI17-00109

Tipo y forma: Article (Published version)

Área (Departamento): Área Bioquímica y Biolog.Mole. (Dpto. Bioq.Biolog.Mol. Celular)
Área (Departamento): Área Biología Celular (Dpto. Bioq.Biolog.Mol. Celular)