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Human hepatic lipase mutations and polymorphisms.

R A Hegele1, L Tu, P W Connelly

  • 1DNA and Lipid Research Laboratories, St. Michael's Hospital, Toronto, Ontario, Canada.

Human Mutation
|January 1, 1992
PubMed
Summary
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Researchers identified six human hepatic lipase (HL) gene variants, including two new ones. Rare mutations S267F and T383M are linked to hyperlipidemia and familial HL deficiency.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Human hepatic lipase (HL) is crucial for triglyceride hydrolysis in plasma lipoproteins.
  • Familial HL deficiency, a rare disorder, leads to premature atherosclerosis and abnormal lipoproteins.

Purpose of the Study:

  • To identify and characterize genetic variants of the human hepatic lipase (HL) gene.
  • To investigate the association of HL gene variants with hyperlipidemia and HL deficiency.

Main Methods:

  • DNA sequencing of the HL gene from affected individuals and families.
  • Analysis of coding sequence variants, including single base pair changes.
  • Genotyping of HL variants in the population.

Main Results:

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  • Six HL DNA variants were identified, with two new variants in exons 3 and 5.
  • Two variants (codons 133 and 202) are silent polymorphisms.
  • Rare mutations S267F and T383M were found in HL-deficient subjects and linked to hyperlipidemia.

Conclusions:

  • The study identified novel HL gene variants, expanding the understanding of HL genetics.
  • Specific HL mutations (S267F and T383M) are associated with hyperlipidemia and HL deficiency.
  • Genetic variations in HL contribute to lipoprotein metabolism disorders.