| Budget Amount *help |
¥17,940,000 (Direct Cost: ¥13,800,000、Indirect Cost: ¥4,140,000)
Fiscal Year 2014: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2013: ¥5,980,000 (Direct Cost: ¥4,600,000、Indirect Cost: ¥1,380,000)
Fiscal Year 2012: ¥6,760,000 (Direct Cost: ¥5,200,000、Indirect Cost: ¥1,560,000)
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| Outline of Final Research Achievements |
Mutations of BSCL2 cause the most severe form of congenital generalized lipodystrophy (CGL). BSCL2mRNAis highly expressed in the brain and testis in addition to the adipose tissue in human, suggesting physiological roles of seipin in non-adipose tissues. Since we found BSCL2 mRNA expression pattern among organs in rat is similar tohumanwhile it is not highly expressed in mouse brain,we generated a Bscl2/seipin knockout (SKO) rat. SKO rats showed total lack of white adipose tissues, while physiologically functional brown adipose tissuewas preserved. Besides the lipodystrophic phenotypes, SKO rats showed impairment of spatial working memory with brainweight reduction and infertility with azoospermia.We confirmed reduction of brain volume and number of sperm in human patients with BSCL2 mutation. This is the first report demonstrating that seipin is necessary for normal brain development and spermatogenesis in addition to white adipose tissue development.
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