Home | Contact | Sitemap | 中文 | CAS
  About Research Education Partnerships People Resources  
Location:Location: Home>>Papers
CAS Members
Principal Investigator
Genetic Association of the Cytochrome c Oxidase-related Genes with Alzheimer's Disease in Han Chinese
author: Bi R, Zhang W, Zhang DF, Xu M, Fan Y, Hu QX, Jiang HY, Tan L, Li T, Fang Y, Zhang C, Yao YG

Alzheimer's disease (AD) is the most common cause of dementia. Mitochondrial dysfunction has been widely reported in AD due to its important role in cellular metabolism and energy production. Complex IV (cytochrome c oxidase, COX) of mitochondrial electron transport chain, is particularly vulnerable in AD. Defects of COX in AD have been well documented, but there is little evidence to support the genetic association of the COX-related genes with AD. In this study, we investigated the genetic association between 17 nuclear-encoded COX-related genes and AD in 1572 Han Chinese. The whole exons of these genes were also screened in 107 unrelated AD patients with a high probability of hereditarily transmitted AD. Variants in COX6B1, NDUFA4, SURF1, and COX10 were identified to be associated with AD. An integrative analysis with data of eQTL, expression and pathology revealed that most of the COX-related genes were significantly downregulated in AD patients and mouse models, and the AD-associated variants in COX6B1, SURF1, and COX10 were linked to altered mRNA levels in brain tissues. Furthermore, mRNA levels of Ndufa4, Cox5a, Cox10, Cox6b2, Cox7a2, and Lrpprc were significantly correlated with Aβ plaque burden in hippocampus of AD mice. Convergent functional genomics analysis revealed strong supportive evidence for the roles of COX6B1, COX10, NDUFA4, and SURF1 in AD. As the result of our comprehensive analysis of the COX-related genes at the genetic, expression, and pathology levels, we have been able to provide a systematic view for understanding the relationships of the COX-related genes in the pathology of AD

Contact the author:
Page number:
Authors units:
PubYear: 2018
Unit code: 152453
Publication name: Neuropsychopharmacology
The full text link: Download
Full papers: Download
Departmens of first author:
Paper source:
Paper type:
Participation of the author:
  Home Mail Login Intranet login Living and Working in Kunming
Copyright© Kunming Institute of Zoology Chinese Academy of Sciences .All Rights Reserved
Address:No.32 Jiaochang Donglu Kunming 650223 Yunnan,China
Tel:+86 871 65130513 Fax:+86 871 65191823 【mail】