Novel Point Mutations and A8027G Polymorphism in Mitochondrial-DNA-Encoded Cytochrome c Oxidase II Gene in Mexican Patients with Probable Alzheimer Disease
Joint Authors
Macías-Islas, Miguel Ángel
Loera-Castañeda, Verónica
Pacheco Moisés, Fermín Paul
Alatorre Jiménez, Moisés Alejandro
Célis de la Rosa, Alfredo
Velázquez-Brizuela, Irma E.
Sandoval-Ramírez, Lucila
Ortiz, Genaro Gabriel
Cortés-Enríquez, Fernando
González-Renovato, Erika Daniela
Source
International Journal of Alzheimer's Disease
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-02-18
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Mitochondrial dysfunction has been thought to contribute to Alzheimer disease (AD) pathogenesis through the accumulation of mitochondrial DNA mutations and net production of reactive oxygen species (ROS).
Mitochondrial cytochrome c-oxidase plays a key role in the regulation of aerobic production of energy and is composed of 13 subunits.
The 3 largest subunits (I, II, and III) forming the catalytic core are encoded by mitochondrial DNA.
The aim of this work was to look for mutations in mitochondrial cytochrome c-oxidase gene II (MTCO II) in blood samples from probable AD Mexican patients.
MTCO II gene was sequenced in 33 patients with diagnosis of probable AD.
Four patients (12%) harbored the A8027G polymorphism and three of them were early onset (EO) AD cases with familial history of the disease.
In addition, other four patients with EOAD had only one of the following point mutations: A8003C, T8082C, C8201T, or G7603A.
Neither of the point mutations found in this work has been described previously for AD patients, and the A8027G polymorphism has been described previously; however, it hasn’t been related to AD.
We will need further investigation to demonstrate the role of the point mutations of mitochondrial DNA in the pathogenesis of AD.
American Psychological Association (APA)
Loera-Castañeda, Verónica& Sandoval-Ramírez, Lucila& Pacheco Moisés, Fermín Paul& Macías-Islas, Miguel Ángel& Alatorre Jiménez, Moisés Alejandro& González-Renovato, Erika Daniela…[et al.]. 2014. Novel Point Mutations and A8027G Polymorphism in Mitochondrial-DNA-Encoded Cytochrome c Oxidase II Gene in Mexican Patients with Probable Alzheimer Disease. International Journal of Alzheimer's Disease،Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-498681
Modern Language Association (MLA)
Loera-Castañeda, Verónica…[et al.]. Novel Point Mutations and A8027G Polymorphism in Mitochondrial-DNA-Encoded Cytochrome c Oxidase II Gene in Mexican Patients with Probable Alzheimer Disease. International Journal of Alzheimer's Disease No. 2014 (2014), pp.1-5.
https://search.emarefa.net/detail/BIM-498681
American Medical Association (AMA)
Loera-Castañeda, Verónica& Sandoval-Ramírez, Lucila& Pacheco Moisés, Fermín Paul& Macías-Islas, Miguel Ángel& Alatorre Jiménez, Moisés Alejandro& González-Renovato, Erika Daniela…[et al.]. Novel Point Mutations and A8027G Polymorphism in Mitochondrial-DNA-Encoded Cytochrome c Oxidase II Gene in Mexican Patients with Probable Alzheimer Disease. International Journal of Alzheimer's Disease. 2014. Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-498681
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-498681