Table 3.
Genetic basis of familial chylomicronaemia syndrome.
| Genes | Inheritance Pattern | Gene Product Function |
|---|---|---|
| LPL | AR | Hydrolysis of TG, reduction in the size of chylomicrons and VLDL via depleting TG-rich core |
| GPIHBPI1 | AR | Binds LPL from subendothelial interstitial space; transports and anchors it to the luminal surface of endothelial cells |
| ApoA5 | AR | Activation of LPL |
| ApoC2 | AR | Activation of LPL |
| LMF 1 | AR | Maturation, stabilisation, and transport of LPL to the capillary endothelial surface |
| GPD 1 | AR | The exact mechanism is unclear; overexpression of mutated genes leads to overproduction and secretion of TG. |
| CREB3L3 | AR | Functions as a transcription factor for canonical gene expression |
AR: autosomal recessive; CREB3L3: CAMP-responsive element-binding protein 3-like protein 3; GPD 1: glycerol-3-phosphate dehydrogenase 1; GPIHBP1: glycosylphosphatidylinositol-anchored HDL-binding protein 1; LMF1: lipase maturation factor 1; LPL: lipoprotein lipase; TG: triglycerides; VLDL: very-low-density lipoprotein.