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Abstract
The study of apolipoprotein (apo) B metabolism is central to our understanding of human lipoprotein metabolism. Moreover, the assembly and secretion of apoB-containing lipoproteins is a complex process. Increased plasma concentrations of apoB-containing lipoproteins are an important risk factor for the development of atherosclerotic coronary heart disease. In contrast, decreased levels of, but not the absence of, these apoB-containing lipoproteins is associated with resistance to atherosclerosis and potential long life. The study of inherited monogenic dyslipidaemias has been an effective means to elucidate key metabolic steps and biologically relevant mechanisms. Naturally occurring gene mutations in affected families have been useful in identifying important domains of apoB and microsomal triglyceride transfer protein (MTP) governing the metabolism of apoB-containing lipoproteins. Truncation-causing mutations in the APOB gene cause familial hypobetalipoproteinaemia, whereas mutations in MTP result in abetalipoproteinaemia; both rare conditions are characterised by marked hypocholesterolaemia. The purpose of this review is to examine the role of apoB in lipoprotein metabolism and to explore the key biochemical, clinical, metabolic and genetic features of the monogenic hypocholesterolaemic lipid disorders affecting apoB metabolism.
| Abbreviations | ||
| ABL, | = | abetalipoproteinaemia; |
| apo, | = | apolipoprotein; |
| APOBEC1, | = | ApoB mRNA editing enzyme catalytic complex 1; |
| COP, | = | coat protein; |
| ER, | = | endoplasmic reticulum; |
| FDB, | = | familial ligand-defective apoB-100; |
| FHBL, | = | familial hypobetalipoproteinaemia; |
| HDL, | = | high-density lipoprotein; |
| HMG-CoA, | = | hydroxymethylglutaryl—coenzyme A; |
| IDL, | = | intermediate-density lipoprotein; |
| kb, | = | kilobase; |
| kDa, | = | kiloDalton; |
| LDL, | = | low-density lipoprotein; |
| LDLR, | = | LDL-receptor; |
| Lp(a), | = | lipoprotein(a); |
| LPL, | = | lipoprotein lipase; |
| LRP, | = | LDL-receptor-related protein; |
| MRS, | = | magnetic resonance spectroscopy; |
| MTP, | = | microsomal triglyceride transfer protein; |
| PDI, | = | protein disulphide isomerase; |
| PCSK9, | = | proprotein convertase subtilisin kexin 9; |
| PERPP, | = | post-ER pre-secretory proteolysis; |
| SARA2, | = | Sara la gene homologue 2; |
| SNP, | = | single nucleotide polymorphism; |
| TG, | = | triglyceride(s); |
| UTR, | = | untranslated region; |
| VLDL, | = | very low-density lipoprotein; |
| VNTR, | = | variable number of tandem repeats. |
| Abbreviations | ||
| ABL, | = | abetalipoproteinaemia; |
| apo, | = | apolipoprotein; |
| APOBEC1, | = | ApoB mRNA editing enzyme catalytic complex 1; |
| COP, | = | coat protein; |
| ER, | = | endoplasmic reticulum; |
| FDB, | = | familial ligand-defective apoB-100; |
| FHBL, | = | familial hypobetalipoproteinaemia; |
| HDL, | = | high-density lipoprotein; |
| HMG-CoA, | = | hydroxymethylglutaryl—coenzyme A; |
| IDL, | = | intermediate-density lipoprotein; |
| kb, | = | kilobase; |
| kDa, | = | kiloDalton; |
| LDL, | = | low-density lipoprotein; |
| LDLR, | = | LDL-receptor; |
| Lp(a), | = | lipoprotein(a); |
| LPL, | = | lipoprotein lipase; |
| LRP, | = | LDL-receptor-related protein; |
| MRS, | = | magnetic resonance spectroscopy; |
| MTP, | = | microsomal triglyceride transfer protein; |
| PDI, | = | protein disulphide isomerase; |
| PCSK9, | = | proprotein convertase subtilisin kexin 9; |
| PERPP, | = | post-ER pre-secretory proteolysis; |
| SARA2, | = | Sara la gene homologue 2; |
| SNP, | = | single nucleotide polymorphism; |
| TG, | = | triglyceride(s); |
| UTR, | = | untranslated region; |
| VLDL, | = | very low-density lipoprotein; |
| VNTR, | = | variable number of tandem repeats. |