Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants.

Autor: Saldaña-Martínez A; Department of Genetic and Molecular Biology, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Mexico City, Mexico., Muñoz ML; Department of Genetic and Molecular Biology, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Mexico City, Mexico. Electronic address: lmunoz@cinvestav.mx., Pérez-Ramírez G; Department of Genetic and Molecular Biology, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Mexico City, Mexico., Montiel-Sosa JF; Department of Biological Sciences, Facultad de Estudios Superiores Cuautitlán-UNAM, Cuautitlán Izcalli, Estado de México, Mexico., Montoya J; Department of Biochemistry and Molecular and Cellular Biology, Universidad de Zaragoza, CIBER de Enfermedades Raras (CIBERER), Zaragoza, Spain., Emperador S; Department of Biochemistry and Molecular and Cellular Biology, Universidad de Zaragoza, CIBER de Enfermedades Raras (CIBERER), Zaragoza, Spain., Ruiz-Pesini E; Department of Biochemistry and Molecular and Cellular Biology, Universidad de Zaragoza, CIBER de Enfermedades Raras (CIBERER), Zaragoza, Spain; Fundación ARAID, Universidad de Zaragoza, Zaragoza, Spain., Cuevas-Covarrubias S; Genetic Service, Hospital General de Mexico, Mexico City, Mexico., López-Valdez J; Pediatric Genetic Service, Hospital Miguel Hidalgo, Aguascalientes, Mexico., Ramírez RG; Department of Neurology and Paediatrics, Centro Médico Nacional Siglo XXI, IMSS, Mexico City, Mexico.
Jazyk: angličtina
Zdroj: Gene [Gene] 2019 Mar 10; Vol. 688, pp. 171-181. Date of Electronic Publication: 2018 Dec 05.
DOI: 10.1016/j.gene.2018.11.085
Abstrakt: 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.
(Copyright © 2018 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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