April 1, 1991Journal of Clinical InvestigationOpen Access

Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.

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Population

5 members of a family of northern European ancestry and COS-7 cells for in vitro expression studies.

Comparison

Genetic sequencing of the LPL gene and in vitro… vs Normal LPL cDNA expressed in COS-7 cells…

Design

Preclinical

Authors

DADetlev AmeisHelios Hospital Siegburg JKJunji KobayashiChiba University RDR.C. DavisUniversity of Arkansas for Medical Sciences

Discussion

Member takes

Implication

Provides a new LPL animal model for chylomicronemia; extends genetic mechanisms but leaves open human translation.

Structured PICO

Population

5 members of a family of northern European ancestry (2 siblings with familial chylomicronemia/LPL deficiency and 3 relatives) and COS-7 cells for in vitro expression studies.

Intervention

Genetic sequencing of the LPL gene and in vitro expression of mutant LPL cDNA (Gly142 to Glu substitution) in COS-7 cells.

Comparator

Normal LPL cDNA expressed in COS-7 cells; unaffected heterozygous relatives.

Outcome

LPL enzymatic activity and enzyme mass secretion.surrogate

A single missense mutation (Gly142 to Glu) in the LPL gene is sufficient to abolish lipoprotein lipase enzymatic activity and cause familial chylomicronemia syndrome.

Cite This Study

Ameis et al. (1991) studied this question.

synapsesocial.com/papers/6a79ddbbf8c4f08607024bf0 https://doi.org/10.1172/jci115114

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Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider