title: Trp64----nonsense mutation in the lipoprotein lipase gene.
abstract: A lipoprotein lipase (LpL) gene defect has been identified, a G----A transition at nucleotide position 446 of exon 3, resulting in a premature termination codon (Trp----stop) at amino acid residue 64. This defect was identified in a Type I hyperlipoproteinemic subject with an amino acid residue 194 defect in the other allele. Plasma lipoprotein values as well as LpL mass and activity in postheparin plasma were determined in the subjects with the residue 64 defect and in other LpL-deficient heterozygotes. LpL mass levels in both the Type I and the other subject with a 64 LpL defect were markedly reduced. This may be explained by rapid degradation of LpL protein or decreased secretion from the 64 defective allele. Alternatively, the marked reduction or absence of mass associated with the 64 defect may be due to synthesis of a severely truncated protein which escapes immunologic detection.
authors.affiliation: Lipid Research Clinic, University of Cincinnati, OH 45267.
authors.forename: D L
authors.initials: DL
authors.lastname: Sprecher
authors.forename: J
authors.initials: J
authors.lastname: Kobayashi
authors.forename: M
authors.initials: M
authors.lastname: Rymaszewski
authors.forename: I J
authors.initials: IJ
authors.lastname: Goldberg
authors.forename: B V
authors.initials: BV
authors.lastname: Harris
authors.forename: P S
authors.initials: PS
authors.lastname: Bellet
authors.forename: D
authors.initials: D
authors.lastname: Ameis
authors.forename: R L
authors.initials: RL
authors.lastname: Yunker
authors.forename: D M
authors.initials: DM
authors.lastname: Black
authors.forename: E A
authors.initials: EA
authors.lastname: Stein
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D005260:Female; D006493:Heparin / Q000097:blood; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000235:genetics; D008071:Lipoprotein Lipase / Q000097:blood / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D013728:Terminator Regions, Genetic; D014364:Tryptophan / Q000235:genetics*
chemical_list: D014364:Tryptophan; D006493:Heparin; D008071:Lipoprotein Lipase