| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
|
|---|
| 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.
|
