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PMID: 1518507 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Molecular genetics of human lipoprotein lipase deficiency.

Molecular and cellular biochemistry ·Vol. 113 ·No. 2 ·1992-08-18 ·Pages 171-6

Hayden MR, Ma Y

Abstract

Lipoprotein lipase (LPL) hydrolysis the triglyceride core of circulating chylomicrons and very-low-density lipoprotein, and modulates the levels and lipid composition of low and high density lipoproteins. Worldwide, more than 20 mutations in the LPL gene have been identified in patients with familial LPL deficiency. Most of these mutations are clustered in the region encoded by exons 4, 5 and 6 which forms the proposed catalytic domain of LPL. In French Canadians who have the highest reported frequency for LPL deficiency, three common mutations in the LPL gene have been identified which account for approximately 97% of mutant genes in this group. Simple DNA-based tests for the detection of all these mutations have been developed for the screening for carriers of LPL deficiency. This will facilitate further studies of phenotypic expression in heterozygous carriers and assessment of the risk of atherosclerosis in these individuals.

MeSH Terms
Arteriosclerosis/etiology Canada/epidemiology Cholesterol, HDL/metabolism France/ethnology Humans Hyperlipoproteinemia Type I/epidemiology,genetics,metabolism Lipoproteins, VLDL/metabolism Molecular Biology
Chemicals
Cholesterol, HDL Lipoproteins, VLDL
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Hayden M R
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Ma Y
References (26)
26 references, click to expand
  1. Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency.
    Am J Hum Genet. 1990 Jan;46(1):112-9 PMID: 2294743
  2. Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene.
    Am J Hum Genet. 1990 Jul;47(1):107-11 PMID: 2349938
  3. Defective enzyme protein in lipoprotein lipase deficiency.
    Eur J Clin Invest. 1989 Oct;19(5):433-7 PMID: 2511019
  4. Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.
    J Clin Invest. 1991 Jun;87(6):2005-11 PMID: 1674945
  5. Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase.
    J Biol Chem. 1988 Jan 25;263(3):1107-10 PMID: 2447084
  6. Organization of the human lipoprotein lipase gene and evolution of the lipase gene family.
    Proc Natl Acad Sci U S A. 1989 Dec;86(24):9647-51 PMID: 2602366
  7. A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians.
    N Engl J Med. 1991 Jun 20;324(25):1761-6 PMID: 2038366
  8. A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries.
    Genomics. 1992 Jul;13(3):649-53 PMID: 1639392
  9. Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency.
    J Biol Chem. 1990 Apr 5;265(10):5910-6 PMID: 1969408
  10. Triglyceride and cholesterol metabolism in primary hypertriglyceridemia.
    Arteriosclerosis. 1982 Jan-Feb;2(1):44-57 PMID: 7059323
  11. Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.
    J Biol Chem. 1991 Jan 5;266(1):473-7 PMID: 1702428
  12. Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene.
    Nucleic Acids Res. 1990 Sep 25;18(18):5407-11 PMID: 2216713
  13. High density lipoprotein as a protective factor against coronary heart disease. The Framingham Study.
    Am J Med. 1977 May;62(5):707-14 PMID: 193398
  14. Primary lipoprotein-lipase-activity deficiency: clinical investigation of a French Canadian population.
    CMAJ. 1989 Feb 15;140(4):405-11 PMID: 2914262
  15. Structure of human pancreatic lipase.
    Nature. 1990 Feb 22;343(6260):771-4 PMID: 2106079
  16. Characterization of a lipoprotein lipase class III type defect in hypertriglyceridemic cats.
    Clin Invest Med. 1990 Oct;13(5):259-63 PMID: 2276220
  17. High density lipoprotein2. Relationship of the plasma levels of this lipoprotein species to its composition, to the magnitude of postprandial lipemia, and to the activities of lipoprotein lipase and hepatic lipase.
    J Clin Invest. 1987 Aug;80(2):341-7 PMID: 3611351
  18. Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene.
    Am J Hum Genet. 1990 Oct;47(4):721-6 PMID: 2121025
  19. A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.
    J Clin Invest. 1990 Sep;86(3):728-34 PMID: 1975597
  20. Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family.
    J Biol Chem. 1991 Aug 5;266(22):14418-24 PMID: 1907278
  21. A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency.
    Proc Natl Acad Sci U S A. 1989 Feb;86(3):948-52 PMID: 2536938
  22. Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis.
    J Biol Chem. 1992 Jan 25;267(3):1918-23 PMID: 1730727
  23. Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.
    J Clin Invest. 1991 Apr;87(4):1165-70 PMID: 2010533
  24. Frameshift mutation in exon 3 of the lipoprotein lipase gene causes a premature stop codon and lipoprotein lipase deficiency.
    Mol Biol Med. 1990 Dec;7(6):511-7 PMID: 2077351
  25. Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity.
    Proc Natl Acad Sci U S A. 1990 May;87(9):3474-8 PMID: 2110364
  26. Detection and characterization of the heterozygote state for lipoprotein lipase deficiency.
    Arteriosclerosis. 1989 May-Jun;9(3):326-34 PMID: 2719595
Article Info
Journal
Molecular and cellular biochemistry
Abbr.
Mol Cell Biochem
ISSN
0300-8177
DOI
10.1007/BF00231536
Published
1992-08-18
Pages
171-6
Language
English
Region
Netherlands
NLM ID
0364456
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00231536 View journal details
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