Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants
Saldaña-Martínez, A. ; Muñoz, M.D.L. ; Pérez-Ramírez, G. ; Montiel-Sosa, J.F. ; Montoya, J. (Universidad de Zaragoza) ; Emperador, S. (Universidad de Zaragoza) ; Ruiz-Pesini, E. (Universidad de Zaragoza) ; Cuevas-Covarrubias, S. ; López-Valdez, J. ; Ramírez, R.G.
Resumen: Mitochondria both produce the energy of the cell as ATP via respiration and regulate cellular metabolism. Accordingly, any deletion or mutation in the mitochondrial DNA (mtDNA) may result in a disease. One of these diseases is Kearns Sayre syndrome (KSS), described for the first time in 1958, where different large-scale deletions of different sizes and at different positions have been reported in the mitochondrial genome of patients with similar clinical symptoms. In this study, sequences of the mitochondrial genome of three patients with clinic features of KSS were analyzed. Our results revealed the position, heteroplasmy percentage, size of deletions, and their haplogroups. Two patients contained deletions reported previously and one patient showed a new deletion not reported previously. These results display for the first time a systematic analysis of mtDNA variants in the whole mtDNA genome of patients with KSS to help to understand their association with the disease.
Idioma: Inglés
DOI: 10.1016/j.gene.2018.11.085
Año: 2019
Publicado en: GENE 688 (2019), 171-181
ISSN: 0378-1119
Factor impacto JCR: 2.984 (2019)
Categ. JCR: GENETICS & HEREDITY rank: 83 / 177 = 0.469 (2019) - Q2 - T2
Factor impacto SCIMAGO: 0.898 - Medicine (miscellaneous) (Q1) - Genetics (Q2)
Financiación: info:eu-repo/grantAgreement/ES/DGA/FEDER
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/PI17-00021
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/PI17-00166
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)
You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use. You may not use the material for commercial purposes. If you remix, transform, or build upon the material, you may not distribute the modified material.
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Idioma: Inglés
DOI: 10.1016/j.gene.2018.11.085
Año: 2019
Publicado en: GENE 688 (2019), 171-181
ISSN: 0378-1119
Factor impacto JCR: 2.984 (2019)
Categ. JCR: GENETICS & HEREDITY rank: 83 / 177 = 0.469 (2019) - Q2 - T2
Factor impacto SCIMAGO: 0.898 - Medicine (miscellaneous) (Q1) - Genetics (Q2)
Financiación: info:eu-repo/grantAgreement/ES/DGA/FEDER
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/PI17-00021
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/PI17-00166
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)
You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use. You may not use the material for commercial purposes. If you remix, transform, or build upon the material, you may not distribute the modified material. Exportado de SIDERAL (2020-07-16-08:54:56)
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Este artículo se encuentra en las siguientes colecciones:
Articles > Artículos por área > Bioquímica y Biología Molecular
Articles > Artículos por área > Histología
Record created 2019-12-12, last modified 2020-07-16