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Review
. 2001 Dec;69(6):1161-77.
doi: 10.1086/324647. Epub 2001 Oct 26.

Monogenic dyslipidemias: window on determinants of plasma lipoprotein metabolism

R A Hegele  1
Affiliations
Review

Monogenic dyslipidemias: window on determinants of plasma lipoprotein metabolism

R A Hegele. Am J Hum Genet. 2001 Dec.
No abstract available

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Figures

Figure 1
Figure 1
Four compartments important in plasma lipoprotein metabolism: liver (A), intestine (B), plasma (C), and peripheral cell (D). The main plasma lipoproteins—namely, CM (and its remnant, CMR), VLDL (and its remnant, IDL), LDL, and HDL—are represented as spheres within the shaded plasma compartment (C). Incoming arrows to the plasma compartment represent secretion from tissues into plasma, and outgoing arrows from the plasma represent uptake into tissues. Within the plasma space, arrows between lipoproteins represent processing reactions. In the liver (A) and peripheral cell (D), arrows between lipid constituents—such as the cellular pools of FC, CE, TG, acetyl coenzyme A (Ac), BA, and PL—indicate intracellular processes. In the intestinal lumen (B), arrows between lipids indicate processing and/or progress through the intestinal tract. In the intestine (B), outgoing and incoming arrows involving enterocytes indicate, respectively, secretion into and absorption from the lumen of lipids (B), including FFA, TG, FC, BA, and sitosterol (S). Gene products are shown, throughout the figure, in a lighter font. Gene products involved in lipoprotein secretion and catabolism, in intracellular lipid processing, and in intestinal lipid transport are shown beside the appropriate arrow. Intestinal intracellular ABCG5 and ABCG8 are indicated (B). Apolipoproteins are shown on the surfaces of the plasma lipoproteins (C). Abbreviations are defined in table 1 and in the text. Earlier studies of the molecular basis of monogenic dyslipidemias—such as mutant LDLR in AD FH, mutant genes resulting in abnormal apolipoproteins (APOB, APOE, APOC2, and APOAI), plasma enzyme deficiencies (LPL, LIPC, CETP, and LCAT), and ABL (MTP)—provided key insights into plasma lipoprotein metabolism. The recent positional cloning–based discoveries of genes for three other monogenic dyslipidemias—ARH in AR FH (A), ABCG5 and ABCG8 in sitosterolemia (B), and ABCA1 in Tangier disease (B and D)—have added new routes to the lipoprotein metabolic road map.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. Low Density Lipoprotein Receptor (LDLR) Gene in Familial Hypercholesterolemia, The, http://www.ucl.ac.uk/fh/ (for LDLR number and activity)
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for APOB or FHBL1 [MIM 107730], APOBEC1 [MIM 600130], FH [MIM 143890], ARH [MIM 603813], ARH [MIM 605747], Wolman disease [MIM 278000], ABL [MIM 200100], MTP [MIM 157147], SLC10A2 [MIM 601295], APOA1 [MIM 107680], LCAT [MIM 245900], fish-eye disease [MIM 136120], ABCA1 [MIM 600046], GD1 [MIM 230800], NPC1 [MIM 257220], HL [MIM 151670], CETP [MIM 118470], LPL [MIM 238600], APOC2 [MIM 207750], FHCL [MIM 144250], APOA1/C3/A4 gene cluster [MIM 107680/107720/107690], Fredrickson type III dysbetalipoproteinemia [MIM 107741], ABCG5 [MIM 605459], ABCG8 [MIM 605460], LRP1 [MIM 107770], VLDLR [MIM 192977], SRB1 or CLA1 [MIM 601040], LIPG [MIM 603684], PNLIP [MIM 246600], PLTP [MIM 172425], CYP7A1 [MIM 118445], RXRA [MIM 180245], cerebrotendinous xanthomatosis [MIM 213700], SLOS [MIM 270400], DHCR7 [MIM 602858], HMGCR [MIM 142910], HMGCS1 [MIM 142940], HMGCS2 [MIM 600234], ketothiolase activity [MIM 203750], SOAT1 [MIM 102642], SOAT2 [MIM 601311], DGAT [MIM 604900], Bietti crystalline corneoretinal dystrophy [MIM 210370], SREBP1 [MIM 184756], FPLD [MIM 151660], mutant LMNA [MIM 150330], and HNF1A [MIM 142410])

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