• Nippon Rinsho · Feb 2009

    [Human genetic mutations and polymorphisms of adipocytokines relating to obesity].

    • Aki Hiuge and Shinji Kihara.
    • Department of Metabolic Medicine, Graduate School of Medicine, Osaka University.
    • Nippon Rinsho. 2009 Feb 1; 67 (2): 266-9.

    AbstractHuman gene mutations and polymorphisms of adipocytokines, adipocyte-derived bioactive molecules, have been reported to be implicated in the pathogenesis of obesity. Leptin and its receptor gene mutations are well-established in the development of severe obesity. Among early onset severe obese patients, the prevalence of various leptin-receptor gene mutations was about 3%. The polymorphisms of adiponectin, another important adipocytokine with anti-atherogenic and anti-diabetic properties, are reported to associate with the pathophysiology but not with the severity of obesity. Adipocytokine dysregulation due to lifestyle-mediated obesity would be common at this stage, although further study of adipocytokine mutation should be necessary.

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