{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T21:04:01Z","timestamp":1740171841767,"version":"3.37.3"},"reference-count":25,"publisher":"Wiley","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["International Journal of Alzheimer's Disease"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>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 (<jats:italic>MTCO II<\/jats:italic>) in blood samples from probable AD Mexican patients.<jats:italic>MTCO II<\/jats:italic>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\u2019t 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.<\/jats:p>","DOI":"10.1155\/2014\/794530","type":"journal-article","created":{"date-parts":[[2014,2,18]],"date-time":"2014-02-18T21:03:57Z","timestamp":1392757437000},"page":"1-5","source":"Crossref","is-referenced-by-count":1,"title":["Novel Point Mutations and A8027G Polymorphism in Mitochondrial-DNA-Encoded Cytochrome c Oxidase II Gene in Mexican Patients with Probable Alzheimer Disease"],"prefix":"10.1155","volume":"2014","author":[{"given":"Ver\u00f3nica","family":"Loera-Casta\u00f1eda","sequence":"first","affiliation":[{"name":"Laboratorio de Desarrollo-Envejecimiento: Enfermedades Neurodegenerativas, Divisi\u00f3n de Neurociencias, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada No. 800 colonia Independencia 44340 Guadalajara, JAL, Mexico"},{"name":"Laboratorio de Farmacogen\u00f3mica y 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