What question did this study set out to answer?

To identify and characterize the molecular defect causing lipoprotein lipase deficiency in a subject with Type I hyperlipoproteinemia.

June 1, 1992Journal of Lipid ResearchOpen Access

Trp64—-nonsense mutation in the lipoprotein lipase gene.

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To identify and characterize the molecular defect causing lipoprotein lipase deficiency in a subject with Type I hyperlipoproteinemia.
Sequenced exon 3 of the lipoprotein lipase gene to detect pathogenic nucleotide transitions.
Measured plasma lipoprotein levels along with lipoprotein lipase mass and catalytic activity in postheparin plasma from subjects carrying the mutation and other heterozygous controls.
Identified a G-to-A transition at nucleotide 446 of exon 3, converting tryptophan at codon 64 into a premature stop codon in a compound heterozygote with an independent residue 194 mutation.
Observed a marked reduction in postheparin lipoprotein lipase mass in subjects harboring the residue 64 defect compared to standard heterozygous levels.

Structured PICO

Population

Subjects with a Trp64-nonsense mutation in the lipoprotein lipase (LpL) gene, including a Type I hyperlipoproteinemic subject with an amino acid residue 194 defect in the other allele, and other LpL-deficient heterozygotes.

Outcome

Plasma lipoprotein values, LpL mass, and activity in postheparin plasmasurrogate

Identification of a Trp64-nonsense mutation in the LpL gene explains marked reduction in LpL mass in affected subjects, contributing to the understanding of the genetic basis of Type I hyperlipoproteinemia.

Discussion

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Implication

May link Trp64 nonsense mutation to LpL deficiency; hypothesis-generating for Type I hyperlipoproteinemia genetics and needs replication.

Cite This Study

Sprecher et al. (1992) studied this question.

synapsesocial.com/papers/6a706378660549caf2c4f6c8 https://doi.org/10.1016/s0022-2275(20)41511-1

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Trp64—-nonsense mutation in the lipoprotein lipase gene.

Key Points

Structured PICO

Discussion

Implication

Cite This Study

Trp64—-nonsense mutation in the lipoprotein lipase gene.

Key Points

Structured PICO

Discussion

Implication

Cite This Study

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