September 1, 1994Journal of Lipid ResearchOpen Access

A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410–>Val) leads to enzyme inactivation and familial chylomicronemia.

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Population

1 patient with familial chylomicronemia and in vitro expression models of mutant LPL enzymes.

Comparison

In vitro expression of mutant LPL enzymes vs Wild-type LPL enzyme

Design

Preclinical

Authors

LPL. PreviatoUniversity of Padua OGOrnella GuardamagnaOspedale Regina Margherita KDKlaus A. DugiHenry M. Jackson Foundation

Discussion

Member takes

Implication

LPL410 mutation impairs lipase activity in animal models; leaves open its role in human chylomicronemia and requires clinical validation.

Structured PICO

Population

1 patient with familial chylomicronemia (triglycerides ranging from normal to 12,000 mg/dl, low LPL mass, no LPL activity in post-heparin plasma) and in vitro expression models of mutant LPL enzymes.

Intervention

In vitro expression of mutant LPL enzymes (Val410, Ter447, or both)

Comparator

Wild-type LPL enzyme

Outcome

Enzyme specific activity using triolein and tributyrin substratessurrogate

A novel missense mutation (Glu410-->Val) in the C-terminal domain of lipoprotein lipase leads to severe reduction in enzyme activity, causing familial chylomicronemia.

Cite This Study

Previato et al. (1994) studied this question.

synapsesocial.com/papers/6a82c140a7c6f3cae68addee https://doi.org/10.1016/s0022-2275(20)41153-8

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A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410–>Val) leads to enzyme inactivation and familial chylomicronemia.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410–>Val) leads to enzyme inactivation and familial chylomicronemia.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider