APOB AND APOA1 KINETICS IN HETEROZYGOUS LIPOPROTEIN LIPASE DEFICIENCY

杂合脂蛋白脂肪酶缺乏症中的 APOB 和 APOA1 动力学

• 批准号: 5225630
• 负责人: DENNIS L SPRECHER
• 金额: --
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/5225630
• 关键词: alleles; aminoacid metabolism; apolipoproteins; blood lipoprotein metabolism; child (0-11); clinical research; deuterium; diet; enzyme activity; enzyme deficiency; heterozygote; human subject; injection /infusion; leucine; lipoprotein lipase; nutrition related tag

To examine the role of single allele lipoprotein lipase (LpL) structural defects in lipoprotein metabolism, and explain the possible reasons for altered clinical expression in heterozygous LpL deficiency, we studied 14 patients with heterozygous LpL deficiency and 3 homozygotes (LpL defects in both alleles). Subjects consumed an average American diet for four weeks to achieve dietary stabilization. ApoB-100 (LDL, IDL, and VLDL), and apoB48 (chylomicrons/remnants), production and catabolic rates were measured on a metabolic ward, during a 15-hour infusion of deuterated leucine in the continuously fed state, as well as a bolus infusion of 13C-leucine.

为了研究单等位基因脂蛋白脂酶（LpL）结构在 脂蛋白代谢缺陷，并解释可能的原因 我们研究了杂合型LpL缺乏症的临床表达改变， 14例为杂合子型LpL缺陷，3例为纯合子型LpL缺陷 两个等位基因中的缺陷）。受试者食用平均美国饮食， 四周来达到饮食稳定。 ApoB-100（LDL、IDL和 VLDL）和apoB 48（乳糜微粒/残余物），产生和分解代谢率 在代谢病房，在15小时的输液过程中， 在连续进食状态下的氘代亮氨酸，以及推注 输注13 C-亮氨酸。