Identification of new causative genes for lipodystrophy and elucidation of adipocyte differentiation/proliferation mechanism

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461333
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Metabolomics
• Research Institution: Kyoto University
• Principal Investigator: KUSAKABE Toru 京都大学, 医学研究科, 客員研究員 (60452356)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 脂肪萎縮症 / エクソーム解析 / 脂肪細胞分化 / 脂肪細胞機能 / iPS細胞

Outline of Final Research Achievements

Gene analyses were performed in 6 patients with lipodystrophy (3 patients with generalized lipodystrophy and 3 patients with partial lipodystrophy). In one case of congenital generalized lipodystrophy, a new compound heterozygous mutation was identified in the AGPAT2 gene. In the clinical findings, the phenotype of the lipodystrophic patients due to the AGPAT2 gene mutation was different from that of the lipodystrophic patients due to the BSCL2 gene mutation in terms of the severity of lipoatrophy and its complications. Exosome analyses revealed many polymorphisms of genes involved in lipid metabolism. In the future, additional genetic analyses including relatives and functional analyses using their iPS cells will identify new causative genes for lipodystrophy and the mechanism of adipocyte differentiation/proliferation may become clear.

Free Research Field

医歯薬学