title: Genetic background of aberrant thermogenin expression (UCP1) in obesity leading to metabolic syndrome.
abstract: Cardiovascular and metabolic disturbances individually and interdependently lead to chronic pathological conditions observed in cardio-metabolic diseases (CMDs). In Europe, the morbidity and mortality caused by cardiovascular disease are the highest among all diseases. Therefore, it seems important to search for new and alternative therapies for obesity, which is the main cause of type 2 diabetes (T2D) and cardiovascular disease (CD). Great attention has been paid to the role of brown adipose tissue in fat burning and the possibility of transformation of the white adipose tissue to cells with brown adipose tissue function as a potential form of treatment of obesity. The best-characterized marker of brown adipose tissue is uncoupling protein 1 (UCP1), which has the ability to dissipate energy as heat in the process called non-shivering thermogenesis. Numerous studies have shown that altered expression of this protein can lead to disturbances in fat metabolism. One possible reason for the aberrant expression of UCP1 may be inherited variations in the gene encoding that protein. Therefore, several studies investigating the role of polymorphisms in the gene encoding UCP1 in susceptibility to obesity or metabolic syndrome have been performed. Here we summarize the results of studies describing the associations between the UCP1 gene polymorphisms A-3826G, A-1766G, Met229Leu and Ala64Thr and polymorphism Trp64Arg in the β3-AR gene, their correlations and their associations with the occurrence of metabolic syndrome.
authors.affiliation: Instytut Immunologii i Terapii Doświadczalnej PAN im. L. Hirszfelda we Wrocławiu.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Stosio
authors.affiliation: Instytut Immunologii i Terapii Doświadczalnej PAN im. L. Hirszfelda we Wrocławiu.
authors.forename: Agata
authors.initials: A
authors.lastname: Witkowicz
authors.affiliation: Instytut Immunologii i Terapii Doświadczalnej PAN im. L. Hirszfelda we Wrocławiu; Insytut Genetyki Człowieka PAN w Poznaniu.
authors.forename: Anna
authors.initials: A
authors.lastname: Kowalska
authors.affiliation: Instytut Immunologii i Terapii Doświadczalnej PAN im. L. Hirszfelda we Wrocławiu.
authors.forename: Lidia
authors.initials: L
authors.lastname: Karabon
mesh_terms: D002001:Adipose Tissue, Brown / Q000378:metabolism*; D052436:Adipose Tissue, White; D000818:Animals; D005786:Gene Expression Regulation; D006801:Humans; D050356:Lipid Metabolism; D024821:Metabolic Syndrome / Q000209:etiology / Q000235:genetics / Q000378:metabolism*; D009765:Obesity / Q000235:genetics / Q000378:metabolism* / Q000628:therapy; D011110:Polymorphism, Genetic; D022722:Thermogenesis; D000071256:Uncoupling Protein 1 / Q000235:genetics*
chemical_list: C000604371:UCP1 protein, human; D000071256:Uncoupling Protein 1