Peritz L N, Brunzell J D, Harvey-Clarke C, Pritchard P H, Jones B R, Hayden M R
Department of Medical Genetics, University of British Columbia, Vancouver.
Clin Invest Med. 1990 Oct;13(5):259-63.
Lipoprotein lipase (LPL) is an important enzyme involved in triacylglycerol metabolism in plasma. We have characterized the deficiency in LPL activity in hypertriglyceridemic cats. Pre- and postheparin plasma contain a similar high level of LPL mass, which has no enzymatic activity. This indicates that the cats produce an abnormal LPL protein which is inactive and fails to bind to the endothelium. This phenomenon is similar to the Class III type defect characterized in human LPL deficiency. Molecular analyses indicate that there is no major structural rearrangement in the LPL gene, and that the mRNA and protein products are normal with respect to size and quantity. These cats present unique animal model for human LPL deficiency.
脂蛋白脂肪酶（LPL）是参与血浆中三酰甘油代谢的一种重要酶。我们已对高甘油三酯血症猫的LPL活性缺乏进行了特征描述。肝素注射前和注射后的血浆中LPL质量水平相似且都很高，但无酶活性。这表明猫产生了一种无活性且无法与内皮细胞结合的异常LPL蛋白。这种现象类似于人类LPL缺乏所具有的III类缺陷。分子分析表明，LPL基因没有重大结构重排，其mRNA和蛋白质产物在大小和数量方面均正常。这些猫为人类LPL缺乏提供了独特的动物模型。
