...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Current opinion in lipidology >APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency.
【24h】

APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency.

机译：从人APOA5缺乏症中汲取的教训是APOA5和甘油三酸酯的代谢。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

PURPOSE OF REVIEW: In this review we compare the phenotype and lipoprotein abnormalities of some patients who were found to carry mutations in the APOA5 gene predicted to result in apolipoprotein A-V deficiency. RECENT FINDINGS: The sequencing of the APOA5 gene in patients with primary hypertriglyceridemia, in whom mutations of the LPL and APOC2 genes had been excluded, led to the identification of four families with two different mutations in this gene predicted to result in truncated apolipoprotein A-V. The first mutation (Q148X) was found in a homozygous state in a child with severe type V hyperlipidemia, some clinical manifestations of chylomicronemia syndrome and a slight reduction in plasma postheparin lipoprotein lipase activity. Carriers of a different mutation (Q139X) were recently reported. Four Q139X heterozygotes had type V hyperlipidemia and markedly reduced plasma postheparin lipoprotein lipase activity. The hypertriglyceridemic Q139X heterozygote had other factors that could have contributed to hypertriglyceridemia. ApoB-100 kinetic studies in hypertriglyceridemic Q139X heterozygotes revealed an impairment of very low-density lipoprotein catabolism. SUMMARY: Mutations in the APOA5 gene, leading to truncated apolipoprotein A-V devoid of lipid-binding domains located in the carboxy-terminal end of the protein, if present in the homozygous state, are expected to cause severe type V hyperlipidemia in patients with no mutations in LPL or APOC2 genes. If present in the heterozygous state, these mutations predispose to hypertriglyceridemia in combination with other genetic factors or pathological conditions.
机译：审查的目的：在这篇综述中，我们比较了一些患者的表型和脂蛋白异常，这些患者被发现携带预计会导致载脂蛋白A-V缺乏的APOA5基因突变。最近的发现：原发性高甘油三酯血症患者的APOA5基因测序被排除，LPL和APOC2基因的突变被排除在外，导致鉴定出该基因有两个不同突变的四个家族，预计会导致载脂蛋白A-V被截短。在患有严重V型高血脂症，乳糜微粒血症综合征的某些临床表现以及血浆肝素后脂蛋白脂酶活性略有降低的儿童中，发现第一个突变（Q148X）为纯合子状态。最近报道了另一种变异的携带者（Q139X）。四个Q139X杂合子具有V型高脂血症，血浆肝素后脂蛋白脂酶活性显着降低。高甘油三酯血症Q139X杂合子还有其他可能导致高甘油三酯血症的因素。高甘油三酯酸Q139X杂合子的ApoB-100动力学研究表明，极低密度脂蛋白分解代谢受到损害。摘要：如果以纯合子状态存在，APOA5基因突变会导致截短的载脂蛋白AV缺失，该蛋白在蛋白的羧基末端缺乏脂质结合结构域，预期会导致无突变的患者引起严重的V型高脂血症在LPL或APOC2基因中。如果以杂合状态存在，则这些突变易与其他遗传因素或病理状况结合而导致高甘油三酯血症。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号