Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1981 Sep;33(5):702–708.

Genetic control of lecithin-cholesterol acyltransferase (LCAT): measurement of LCAT mass in a large kindred with LCAT deficiency.

J J Albers, G Utermann
PMCID: PMC1685135  PMID: 7294021

Abstract

Lecithin-cholesterol acyltransferase (LCAT) mass was measured by radioimmunoassay in a large Sardinian kindred with LCAT deficiency. The frequency distribution of LCAT levels in the M-kindred demonstrated a trimodal distribution, one more corresponding to the normal controls and containing the normal relatives, a second mode completely separate from the controls and containing subjects with LCAT levels approximately one-half normal, and a third mode distinct from the other modes containing the two subjects with LCAT deficiency. Fifteen kindred members, including all six spouses, had enzyme levels of 4.92 +/- 0.49 microgram/ml (mean +/- SD), slightly lower but in the same range as controls (6.13 +/- 0.98; no. = 66). Twelve family members, including the two obligate heterozygotes, had enzyme levels of 2.68 +/- 0.32 microgram/ml, roughly one-half that of control levels. The LCAT-deficient subjects had enzyme levels of 0.30 and 0.37 microgram/ml, respectively. Segregation of the acyltransferase deficiency gene (LCATd) provided clear evidence of an autosomal recessive mode of inheritance of LCAT deficiency. Furthermore, the data strongly suggest that family members with half-normal enzyme levels are heterozygous carriers of the LCATd gene.

Full text

PDF
702

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Albers J. J., Adolphson J. L., Chen C. H. Radioimmunoassay of human plasma lecithin-cholesterol acyltransferase. J Clin Invest. 1981 Jan;67(1):141–148. doi: 10.1172/JCI110006. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Bron A. J., Lloyd J. K., Fosbrooke A. S., Winder A. F., Tripathi R. C. Letter: Primary L.C.A.T.-deficiency disease. Lancet. 1975 Apr 19;1(7912):928–929. doi: 10.1016/s0140-6736(75)91740-7. [DOI] [PubMed] [Google Scholar]
  3. Chevet D., Ramée M. P., Le Pogamp P., Thomas R., Garré M., Alcindor L. G. Hereditary lecithin cholesterol acyltransferase deficiency. Report of a new family with two afflicted sisters. Nephron. 1978;20(4):212–219. doi: 10.1159/000181224. [DOI] [PubMed] [Google Scholar]
  4. Fielding C. J., Shore V. G., Fielding P. E. A protein cofactor of lecithin:cholesterol acyltransferase. Biochem Biophys Res Commun. 1972 Feb 25;46(4):1493–1498. doi: 10.1016/0006-291x(72)90776-0. [DOI] [PubMed] [Google Scholar]
  5. Glomset J. A. The plasma lecithins:cholesterol acyltransferase reaction. J Lipid Res. 1968 Mar;9(2):155–167. [PubMed] [Google Scholar]
  6. Hamnström B., Gjone E., Norum K. R. Familial plasma lecithin: cholesterol acyltransferase deficiency. Br Med J. 1969 May 3;2(5652):283–286. doi: 10.1136/bmj.2.5652.283. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Iwamoto A., Naito C., Teramoto T., Kato H., Kako M., Kariya T., Shimizu T., Oka H., Oda T. Familial lecithin: cholesterol acyltransferase deficiency complicated with unconjugated hyperbilirubinemia and peripheral neuropathy. The first reported cases in the Far East. Acta Med Scand. 1978;204(3):219–227. doi: 10.1111/j.0954-6820.1978.tb08427.x. [DOI] [PubMed] [Google Scholar]
  8. Norum K. R., Borsting S., Grundt I. Familial lecithin: cholesterol acyltransferase deficiency. Study of two new patients and their close relatives. Acta Med Scand. 1970 Oct;188(4):323–326. [PubMed] [Google Scholar]
  9. Subbaiah P. V., Albers J. J., Chen C. H., Bagdade J. D. Low density lipoprotein-activated lysolecithin acylation by human plasma lecithin-cholesterol acyltransferase. Identity of lysolecithin acyltransferase and lecithin-cholesterol acyltransferase. J Biol Chem. 1980 Oct 10;255(19):9275–9280. [PubMed] [Google Scholar]
  10. Teisberg P., Gjone E., Olaisen B. Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency. Ann Hum Genet. 1975 Jan;38(3):327–331. doi: 10.1111/j.1469-1809.1975.tb00617.x. [DOI] [PubMed] [Google Scholar]
  11. Utermann G., Menzel H. J., Adler G., Dieker P., Weber W. Substitution in vitro of lecithin-cholesterol acyltransferase. Analysis of changes in plasma lipoproteins. Eur J Biochem. 1980;107(1):225–241. doi: 10.1111/j.1432-1033.1980.tb04643.x. [DOI] [PubMed] [Google Scholar]
  12. Utermann G., Schoenborn W., Langer K. H., Dieker P. Lipoproteins in LCAT-deficiency. Humangenetik. 1972;16(4):295–306. doi: 10.1007/BF00283977. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES