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

Non-alcoholic fatty liver disease (NAFLD) is one of the most common chronic liver diseases. The con- cept of NAFLD ranges from simple steatosis (NAFL) to non-alcoholic steatohepatitis (NASH) and cirrhosis. The majority of NAFLD has been recognized as a hepatic manifestation of metabolic syndrome with a close association with insulin resistance. Regarding the development of NAFLD/NASH, adiponectin and TNFa are thought to have key roles. Moreover, the gut microbiota may affect energy metabolism in the context of NAFLD. Genetic susceptibility to NAFLD may be determined by polymorphisms of patatin-like phospho- lipase domain-containing 3 (PNPLA3) and methylenetetrahydrofolate reductase (MTHFR). The diagnosis of NAFLD/NASH is made by liver biopsy. The differential diagnosis between NAFL and NASH has been made according to Matteoni's classification, and the progression of liver fibrosis has been determined by Brunt's staging. For the prevention and treatment of NAFLD, the modification of dietary habits and promo- tion of physical activity including aerobic and resistance training are essential. Although vitamin E, pioglita- zone, or liraglutide is used as a first-line treatment for NAFLD, pharmacotherapy for NAFLD has not been established because of the insufficient pharmacological effects of these agents. Among recently developed drugs, farnesoid X nuclear receptor ligand obeticholic acid is the most promising for first-in-class treatment of NASH. In this review, the details of recent advances in knowledge about the epidemiology, etiology, diag- nosis, and treatment of NAFLD/NASH are described. [Review].
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PMID:[Progress in the Management of NAFLD/NASH]. 3069 68