Biomedical Engineering Reference
In-Depth Information
Tabl e 1. 7.
Lipids and associated genes (Sources: [
4
,
5
]). Investigations commonly examine
high-density and low-density lipoprotein cholesterol, and total plasma triglycerides that are
carried mainly in very-low-density lipoproteins and their remnants. Involved genes encode
(1) apolipoproteins (ApoA-ApoC and ApoE); (2) lipoprotein receptor (LDLR) and multiligand
endocytic receptor sortilin (Sort1) for lipoprotein lipase (LPase) that acts as a sorting receptor in the
Golgi body and clearance receptor on the cell surface; (3) transporters of cholesterol (ABCa1) and
cholesterol ester (CETP); (4) transcription factor Max-like protein X (MLX)-interacting protein-
like (MLXIPL; a.k.a. class-D basic helix-loop-helix protein bHLHd14 and Williams-Beuren
syndrome chromosomal region 14 protein [WBSCR14] that activates triglyceride synthesis in a
glucose-dependent manner, as it binds to carbohydrate response elements of promoters of triglyc-
eride synthesis genes; (5) enzymes of cholesterol synthesis such as mevalonate kinase (MvK)
and degradation such as methylmalonic aciduria B-type protein (MMAB; a.k.a. cob(I)alamin
adenosyltransferase); (6) glycosyltransferases, such as
β
(1,3)-galactosyltransferase 4 (
β
3GalLT4;
UDP
galactose
N
acetyl glucosamine),
a.k.a.
β
β
(1,3)-galactosyltransferase polypeptide 4),
β
(1,4)-
N
acetyl
galactosyltransferase
4
(
β
4GalLT4),
and
protein-UDP
galactosaminyltransferase
2
(GalNT2; a.k.a. UDP-
N
acetyl
α
D
galactosamine-polypeptide
N
acetylgalactosaminyltransferase 2);
(7) lipoprotein (LPase; LPL gene), hepatic (LipC), and endothelial (LipG) lipases; and (8) inhibitor
of lipase such as angiopoietin-like protein-3 (AngptL3; a.k.a. angiopoietin-5). Other targets include
3-hydroxy 3-methylglutaryl coenzyme-A reductase (HMGCR); cadherin, EGF-like, LAG-like, and
seven-pass receptor CELSR2; cartilage intermediate layer protein CILP2; lysolecithin cholesterol
acyltransferase (LCAT); myosin-binding protein H-like molecule (MyBPHL); neurocan (NCan;
a.k.a. chondroitin sulfate proteoglycan CSPG3); preB-cell leukemia homeobox transcription factor
PBx4; proline/serine-rich coiled-coil protein PSRC1; proprotein convertase subtilisin-kexin-like
peptidase PCSK9 (a.k.a. neural apoptosis-regulated convertase); sterol regulatory element-binding
protein (SREBP); and tribbles homolog Trib1.
Lipids
Genes
Triglycerides
Cilp2-PBX4; Mlxipl
LPL; GALNT2; ANGPTL3; TRIB1
APOA1-APOA4-APOA5-APOC3 cluster
APOB, APOC-APOE cluster
HDL cholesterol
MVK-Mmab cluster
Srebp2 (MvK and MMAB regulation)
LCAT; CEPT; ABCA1
APOA1-APOA4-APOA5-APOC3 cluster
LIPC, LIPG, LPL; GALNT2
LDL cholesterol
Celsr2-Psrc1-MYBPHL-SORT1 cluster
HMGCR; LDLR; Pcsk9; Cilp2; PBX4
APOB, APOC1-APOC2-APOC4-APOE cluster
SORT1; NCAN
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