Редактирование: COX7A1 (раздел)

==Publications==

{{medline-entry
|title=Age influences DNA methylation and gene expression of [[COX7A1]] in human skeletal muscle.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/18488190
|abstract=Reduced oxidative capacity of the mitochondria in skeletal muscle has been suggested to contribute to insulin resistance and type 2 diabetes. Moreover, a set of genes influencing oxidative phosphorylation (OXPHOS) is downregulated in diabetic muscle. Here we studied whether genetic, epigenetic and non-genetic factors influence a component of the respiratory chain, [[COX7A1]], previously shown to be downregulated in skeletal muscle from patients with type 2 diabetes. The specific aims were to: (1) evaluate the impact of genetic (single nucleotide polymorphisms [SNPs]), epigenetic (DNA methylation) and non-genetic (age) factors on the expression of [[COX7A1]] in human skeletal muscle; and (2) investigate whether common variants in the [[COX7A1]] gene are associated with increased risk of type 2 diabetes. [[COX7A1]] mRNA expression was analysed in muscle biopsies from young (n = 110) and elderly (n = 86) non-diabetic twins and related to measures of in vivo metabolism. Genetic variants (three SNPs) from the [[COX7A1]] locus were genotyped in the twins and in two independent type 2 diabetes case-control cohorts (n = 1466 and 6380, respectively). DNA methylation of the [[COX7A1]] promoter was analysed in a subset of twins (ten young, ten elderly) using bisulphite sequencing. While DNA methylation of the [[COX7A1]] promoter was increased in muscle from elderly compared with young twins (19.9  /- 8.3% vs 1.8  /- 2.7%; p = 0.035), the opposite was found for [[COX7A1]] mRNA expression (elderly 1.00  /- 0.05 vs young 1.68  /- 0.06; p = 0.0005). The heritability of [[COX7A1]] expression was estimated to be 50% in young and 72% in elderly twins. One of the polymorphisms investigated, rs753420, influenced basal [[COX7A1]] expression in muscle of young (p = 0.0001) but not of elderly twins. The transcript level of [[COX7A1]] was associated with increased in vivo glucose uptake and VO(2max) (p = 0.009 and p = 0.001, respectively). We did not observe any genetic association between [[COX7A1]] polymorphisms and type 2 diabetes after correcting for multiple testing. Our results provide further evidence for age as a factor influencing DNA methylation and expression of OXPHOS genes, and thereby in vivo metabolism.
|mesh-terms=* Adult
* Aged
* Aging
* Biopsy
* DNA Methylation
* Diabetes Mellitus, Type 2
* Electron Transport Complex IV
* Epigenesis, Genetic
* Female
* Gene Expression Regulation
* Genetic Predisposition to Disease
* Humans
* Insulin Resistance
* Male
* Middle Aged
* Muscle, Skeletal
* Oxidative Phosphorylation
* Polymorphism, Single Nucleotide
* Promoter Regions, Genetic
* RNA, Messenger
* Risk Factors

|full-text-url=https://sci-hub.do/10.1007/s00125-008-1018-8
}}