Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.5.7.1 (methylenetetrahydrofolate reductase)
 2,116 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The factors influencing the onset and progression of chronic kidney disease (CKD) are not completely known. It is believed that genetic factors may play a significant role. The article presents the results of population, family, and animal studies which indicate the participation of genetic factors in CKD development. The main strategies for identifying genes involved in CKD development(genome scan studies and candidate gene studies) are described. Polymorphisms of selected candidate genes for CKD are reviewed. Special attention is paid to studies concerning the genes of the renin-angiotensin-aldosterone system (angiotensin-converting enzyme and angiotensin II type 1 receptor genes), cytokine genes (IL-10, IL-4, IL-6, IL-1beta, TNF-alpha, TGF-beta1,MCP, RANTES), and the gene encoding methylenetetrahydrofolate reductase. The results of studies on the role of TGFB1 gene in kidney diseases are analyzed. The genetic basis of IgA nephropathy and kidney insufficiency progression in the course of the disease is shown. The results of genetic studies of CKD are inconclusive. The article underlines the importance of identifying the genetic background of CKD to individualize patient therapy.
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PMID:[Genetic factors in the development and progression of chronic kidney disease]. 2017 20

Aging is an inevitable biological phenomenon. The incidence of age related disorders (ARDs) such as cardiovascular diseases, cancer, arthritis, dementia, osteoporosis, diabetes, neurodegenerative diseases increase rapidly with aging. ARDs are becoming a key social and economic trouble for the world's elderly population (above 60 years), which is expected to reach 2 billion by 2050. Advancement in understanding of genetic associations, particularly through genome wide association studies (GWAS), has revealed a substantial contribution of genes to human aging and ARDs. In this review, we have focused on the recent understanding of the extent to which genetic predisposition may influence the aging process. Further analysis of the genetic association studies through pathway analysis several genes associated with multiple ARDs have been highlighted such as apolipoprotein E (APOE), brain-derived neurotrophic factor (BDNF), cadherin 13 (CDH13), CDK5 regulatory subunit associated protein 1 (CDKAL-1), methylenetetrahydrofolate reductase (MTHFR), disrupted in schizophrenia 1 (DISC1), nitric oxide synthase 3 (NOS3), paraoxonase 1 (PON1), indicating that these genes could play a pivotal role in ARD causation. These genes were found to be significantly enriched in Jak-STAT signalling pathway, asthma and allograft rejection. Further, interleukin-6 (IL-6), insulin (INS), vascular endothelial growth factor A (VEGFA), estrogen receptor1 (ESR1), transforming growth factor, beta 1(TGFB1) and calmodulin 1 (CALM1) were found to be highly interconnected in network analysis. We believe that extensive research on the presence of common genetic variants among various ARDs may facilitate scientists to understand the biology behind ARDs causation.
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PMID:GENETICS OF HUMAN AGE RELATED DISORDERS. 2685 84