Lecithin–cholesterol acyltransferase explained

Lecithin–cholesterol acyltransferase (LCAT, also called phosphatidylcholine–sterol O-acyltransferase) is an enzyme, in many animals including humans, that converts free cholesterol into cholesteryl ester (a more hydrophobic form of cholesterol), which is then sequestered into the core of a lipoprotein particle, eventually making the newly synthesized HDL spherical and forcing the reaction to become unidirectional since the particles are removed from the surface. The enzyme is bound to high-density lipoproteins (HDLs) (alpha-LCAT) and LDLs (beta-LCAT) in the blood plasma.^[1] LCAT deficiency can cause impaired vision due to cholesterol corneal opacities, anemia, and kidney damage.^[2] It belongs to the family of s.

See also

• Lecithin cholesterol acyltransferase deficiency
• Acyl-CoA:cholesterol acyltransferase (ACAT)

Further reading

• Dobiásová M, Frohlich J . Advances in understanding of the role of lecithin cholesterol acyltransferase (LCAT) in cholesterol transport. . Clin Chim Acta . 286 . 1–2 . 257–71 . 1999 . 10511297 . 10.1016/S0009-8981(99)00106-0.
• Kuivenhoven JA, Pritchard H, Hill J, etal . The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes . J. Lipid Res. . 38 . 2 . 191–205 . 1997 . 10.1016/S0022-2275(20)37433-2 . 9162740 . free .
• de Vries R, Borggreve SE, Dullaart RP . Role of lipases, lecithin:cholesterol acyltransferase and cholesteryl ester transfer protein in abnormal high density lipoprotein metabolism in insulin resistance and type 2 diabetes mellitus . . 49 . 11–12 . 601–13 . 2004 . 14651331 .
• Teisberg P, Gjone E, Olaisen B . Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency . Ann. Hum. Genet. . 38 . 3 . 327–31 . 1975 . 806250 . 10.1111/j.1469-1809.1975.tb00617.x . 42785012 .
• Cogan DG, Kruth HS, Datilis MB, Martin N . Corneal opacity in LCAT disease . Cornea . 11 . 6 . 595–9 . 1993 . 1468226 . 10.1097/00003226-199211000-00021 .
• Skretting G, Blomhoff JP, Solheim J, Prydz H . The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families . FEBS Lett. . 309 . 3 . 307–10 . 1992 . 1516702 . 10.1016/0014-5793(92)80795-I . 26714265 .
• Skretting G, Prydz H . An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease . Biochem. Biophys. Res. Commun. . 182 . 2 . 583–7 . 1992 . 1571050 . 10.1016/0006-291X(92)91772-I .
• Furukawa Y, Urano T, Hida Y, etal . Interaction of rat lecithin-cholesterol acyltransferase with rat apolipoprotein A-I and with lecithin-cholesterol vesicles . J. Biochem. . 111 . 3 . 413–8 . 1992 . 1587806 . 10.1093/oxfordjournals.jbchem.a123771.
• Minnich A, Collet X, Roghani A, etal . Site-directed mutagenesis and structure-function analysis of the human apolipoprotein A-I. Relation between lecithin-cholesterol acyltransferase activation and lipid binding . J. Biol. Chem. . 267 . 23 . 16553–60 . 1992 . 10.1016/S0021-9258(18)42038-8 . 1644835 . free .
• Bujo H, Kusunoki J, Ogasawara M, etal . Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease . Biochem. Biophys. Res. Commun. . 181 . 3 . 933–40 . 1992 . 1662503 . 10.1016/0006-291X(91)92026-G .
• Gotoda T, Yamada N, Murase T, etal . Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency . Lancet . 338 . 8770 . 778–81 . 1991 . 1681161 . 10.1016/0140-6736(91)90665-C . 9708282 .
• Klein HG, Lohse P, Pritchard PH, etal . Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met) . J. Clin. Invest. . 89 . 2 . 499–506 . 1992 . 1737840 . 10.1172/JCI115612 . 442879 .
• Maeda E, Naka Y, Matozaki T, etal . Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene . Biochem. Biophys. Res. Commun. . 178 . 2 . 460–6 . 1991 . 1859405 . 10.1016/0006-291X(91)90129-U .
• Funke H, von Eckardstein A, Pritchard PH, etal . A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity . Proc. Natl. Acad. Sci. U.S.A. . 88 . 11 . 4855–9 . 1991 . 2052566 . 10.1073/pnas.88.11.4855 . 51765 . 1991PNAS...88.4855F . free .
• Taramelli R, Pontoglio M, Candiani G, etal . Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele . Hum. Genet. . 85 . 2 . 195–9 . 1990 . 2370048 . 10.1007/BF00193195 . 23994746 .
• Rogne S, Skretting G, Larsen F, etal . The isolation and characterisation of a cDNA clone for human lecithin:cholesterol acyl transferase and its use to analyse the genes in patients with LCAT deficiency and fish eye disease . Biochem. Biophys. Res. Commun. . 148 . 1 . 161–9 . 1987 . 2823801 . 10.1016/0006-291X(87)91090-4 .
• Tata F, Chaves ME, Markham AF, etal . The isolation and characterisation of cDNA and genomic clones for human lecithin: cholesterol acyltransferase . Biochim. Biophys. Acta . 910 . 2 . 142–8 . 1987 . 2823898 . 10.1016/0167-4781(87)90066-2.
• Yang CY, Manoogian D, Pao Q, etal . Lecithin:cholesterol acyltransferase. Functional regions and a structural model of the enzyme . J. Biol. Chem. . 262 . 7 . 3086–91 . 1987 . 10.1016/S0021-9258(18)61472-3 . 2880847 . free .
• McLean J, Fielding C, Drayna D, etal . Cloning and expression of human lecithin-cholesterol acyltransferase cDNA . Proc. Natl. Acad. Sci. U.S.A. . 83 . 8 . 2335–9 . 1986 . 3458198 . 10.1073/pnas.83.8.2335 . 323291 . 1986PNAS...83.2335M . free .
• Azoulay M, Henry I, Tata F, etal . The structural gene for lecithin:cholesterol acyl transferase (LCAT) maps to 16q22 . Ann. Hum. Genet. . 51 . Pt 2 . 129–36 . 1987 . 3674753 . 10.1111/j.1469-1809.1987.tb01054.x . 31911235 .
• McLean J, Wion K, Drayna D, etal . Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression . Nucleic Acids Res. . 14 . 23 . 9397–406 . 1987 . 3797244 . 10.1093/nar/14.23.9397 . 311966 .

Notes and References

1. 2016-08-08. Lecithin-Cholesterol Acyltransferase Deficiency: Overview, Presentation, Differential Diagnosis.
2. Web site: LCAT gene. Reference. Genetics Home. Genetics Home Reference. 2016-12-11.