Foubert L, Benlian P, Turpin G
Service d'Endocrinologie-Métabolisme, CHU Pitié-Salpêtrière, Paris.
Presse Med. 1996 Feb 10;25(5):207-10.
Lipoprotein lipase (LPL) is a rate-limiting enzyme for the hydrolysis of triglycerides. Recently new insights into non-enzymatic functions have emerged. Complete lipoprotein lipase deficiency associated with chylomicronemia is an uncommon (1/10(6) in the general population) autosomal recessive disorder caused by many different lipoprotein lipase gene mutations and is characterized by high fasting plasma triglyceride levels, that can be complicated with acute pancreatitis. To date, about sixty gene mutations have been described throughout the world. Conversely to the homozygous state, the heterozygous state predisposes to a lipid profile that may be atherogenic evenly frequent (approximately 1/500) in the general population. These new clinical and biological insights reinforce the multifunctional role of lipoprotein lipase.
脂蛋白脂肪酶(LPL)是甘油三酯水解的限速酶。最近,人们对其非酶功能有了新的认识。与乳糜微粒血症相关的完全脂蛋白脂肪酶缺乏症是一种罕见的(普通人群中发病率为1/10⁶)常染色体隐性疾病,由许多不同的脂蛋白脂肪酶基因突变引起,其特征是空腹血浆甘油三酯水平升高,可能并发急性胰腺炎。迄今为止,全世界已描述了约60种基因突变。与纯合子状态相反,杂合子状态易导致一种可能具有致动脉粥样硬化作用的血脂谱,在普通人群中出现频率相同(约1/500)。这些新的临床和生物学见解强化了脂蛋白脂肪酶的多功能作用。