Molecular basis of disorders in ketone body metabolism and regulation of genes involving in its metabolism

我们建立了ACAT1和OXCT1基因的MLPA分析，以分别提高对β-酮硫醇酶(T2)缺乏症和琥珀酰辅酶A：3-酮酸辅酶A转移酶缺乏症的分子诊断。我们发表的论文描述了1)T2“轻微”突变及其对临床(化学)表型的影响2)5例SCOT缺乏症患者的临床特征，他们的突变，突变对SCOT分子三级结构的影响。我们分析了Scot基因转录本在对照组和一例Scot基因有两个外显子跳跃的患者中的剪接顺序。我们还利用芯片技术分析了Scot对肝脏的特异性沉默。

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.