Dyslipidemias associated with heterozygous lipoprotein lipase mutations in the French-Canadian population.
Dyslipidemias associated with heterozygous lipoprotein lipase mutations in the French-Canadian population.
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法裔加拿大人群中与杂合脂蛋白脂肪酶突变相关的血脂异常。
DOI：
10.1002/humu.1380110150
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发表时间：
1998
期刊：
影响因子：
--
通讯作者：
Lupien,PJ
中科院分区：
文献类型：
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作者：
Julien,P;Gagne,C;Murthy,MR;Levesque,G;Moorjani,S;Cadelis,F;Hayden,MR;Lupien,PJ
脂蛋白脂肪酶（LPL）是一种同型二聚体糖基化酶，可水解乳糜微粒和极低密度脂蛋白（VLDL）转运的甘油三酯。因此，它介导脂肪酸向外周组织的供应，并将富含甘油三酯的脂蛋白转化为中密度脂蛋白（IDL）和低密度脂蛋白（LDL）。在此过程中，它还有助于形成高密度脂蛋白（HDL）（Murthy et al.，1996 a）。LPL基因的表征已经导致鉴定出许多导致家族性乳糜微粒血症的突变（综述参见Murthy et al.，199613）。我们已经报道了LPL基因外显子5中密码子188和207处的两个错义突变，导致法裔加拿大人纯合子中无功能的LPL（Monsalve等人，1990; Ma等人，1991; Bergeron等人，1992; Normand等人，1992年）。在魁北克人群中，家族性乳糜微粒血症是由LPL活性缺陷引起的，这是由突变188（存在于23%的受影响等位基因中）和突变207（存在于70%的受影响等位基因中）引起的（Hayden等人，1991; Julien等人，1994年）。我们已经发表了导致家族性LPL缺乏症诊断的临床体征、频率以及情况的详细描述（GagnC等人，1989; Murthy等人，199613）。尽管LPL缺乏症在大多数人群中的发生率较低（百万分之一），但在魁北克东北部，估计纯合性的发生率超过1/10，000（Julien et al.，1994年）。根据Hardy-Weinberg平衡，
Liboprotein lipase (LPL) is a homodimeric glycosylated enzyme that hydrolyzes triglycerides transported by chylomicrons and very-low-density lipoproteins (VLDL). Thus it mediates the supply of fatty acids to peripheral tissues and converts triglyceride-rich lipoproteins to intermediate-density lipoproteins (IDL) and low-density lipoproteins (LDL). In this process it also contributes to the formation of high-density lipoproteins (HDL)(Murthy et al., 1996a).The characterization of LPL gene has led to the identification of numerous mutations responsible for familial chylomicronemia (for review, see Murthy et al., 199613). We have reported two missense mutations of the LPL gene in exon 5, at codons 188 and 207, resulting in nonfunctional LPL in French-Canadian homozygotes (Monsalve et al., 1990; Ma et al., 1991; Bergeron et al., 1992; Normand et al., 1992). In the Quebec population, familial chylomicronemia is caused by deficiency in LPL activity, resulting from mutation 188, present among 23%, and mutation 207, present among 70% of the affected alleles (Hayden et al., 1991; Julien et al., 1994). We have published a detailed description of the clinical signs, the frequency as well as the circumstances leading to the diagnosis of familial LPL deficiency (GagnC et al., 1989; Murthy et al., 199613). Although the incidence of LPL deficiency in most populations is low (1 in a million), the incidence of homozygosity has been estimated to be more than 1 in 10,000 in North Eastern Quebec (Julien et al., 1994). Based on the Hardy-Weinberg equilibrium, the total number of