| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2011: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2010: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2009: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
|
|---|
| Research Abstract |
We established MLPA analysis of ACAT1 and OXCT1 genes to improve molecular diagnosis of beta-ketothiolase(T2) deficiency and succinyl-CoA : 3-ketoacid CoA transferase deficiency, respectively. We published papers describing 1) T2 "mild" mutation and its effects on clinical(chemical) phenotype 2) clinical characterization of 5 SCOT deficient patients, their mutations, mutational effects on tertiary structure of SCOT molecules. We analyzed splicing order of SCOT transcript in controls and a patient of which SCOT mRNA had two exon skipping. We also analyzed liver-specific silencing of SCOT using Chip assay.
|
