Familial hyperlipidemia type 1

Familial hyperlipidemias are classified according to the Fredrickson classification. Type 1 of this classification is linked to a decrease of LPL, either through mutations on the gene itself or because of other factors. LPL hydrolyzed triglycerides in chylomicrons and in very low-density lipoproteins. Type 1 familial hyperlipidemia shows an increase of chylomicrons. LPL normally hydrolizes these chylomicrons into chylomicron remnants. However, mutations in LPL have been shown to be the cause of the first form of type 1 hyperlipidemia. In tissue, LMF1 causes proper folding and assembly of LPL, which is stabalized by Sel1L. LPL is then transported to the endothelial cell surface of the capillary lumen, where it binds to GPIHBP1. APOC2 is essential for LPL activation, which is stabalized by APOA5. Studies have found another form of LPL activity, but with an increased amount of LPL inhibitors. These inhibitors are ANGPTL3,4 and 8. Which of these are inhibiting LPL depends on the tissue the LPL is in.

家族性高脂血症根据弗雷德里克森分类法进行分类。该分类中的第一型与脂蛋白脂酶（LPL）的降低相关，这种降低可能是由于基因本身的突变或其他因素所致。LPL负责在乳糜微粒和极低密度脂蛋白中水解甘油三酯。第一型家族性高脂血症表现为乳糜微粒的增多。LPL通常将这些乳糜微粒水解为乳糜微粒残骸。然而，研究表明LPL突变是第一型高脂血症的第一种形式的原因。在组织中，LMF1促进LPL的正确折叠和组装，而Sel1L则维持其稳定性。随后，LPL被转运至毛细血管腔内皮细胞表面，并与GPIHBP1结合。APOC2对于LPL的激活至关重要，其稳定性由APOA5维持。研究还发现了一种LPL活性的另一种形式，但伴随着LPL抑制剂的增多。这些抑制剂包括ANGPTL3、4和8。这些抑制剂中哪些抑制LPL取决于LPL所处的组织类型。