What question did this study set out to answer?

To investigate whether DNA mutations within the lipoprotein lipase (LPL) gene cause impaired enzyme activity in patients with familial combined hyperlipidemia (FCHL).

August 1, 1994Arteriosclerosis and Thrombosis A Journal of Vascular Biology

Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia.

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Why the study?

Do mutations in the LPL gene impair catalytic activity and lead to familial combined hyperlipidemia?

Population

31 unrelated individuals with familial combined hyperlipidemia (FCHL)

Comparison

Analysis of the LPL gene vs Control chromosomes

Design

Cross-sectional

Authors

ÉGÉric GagnéExact Sciences (United States)JGJ GenestMayo Clinic HZH ZhangUniversity of British Columbia

Discussion

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Implication

LPL mutation screening is unlikely to explain most FCHL cases; leaves open other genetic or regulatory mechanisms for this dyslipidemia.

Key Points

To investigate whether DNA mutations within the lipoprotein lipase (LPL) gene cause impaired enzyme activity in patients with familial combined hyperlipidemia (FCHL).
Analyzed the coding region of the LPL gene in N=31 unrelated individuals diagnosed with FCHL.
Evaluated the functional impact of identified novel mutations on LPL catalytic activity using in vitro assays.
Identified 25 DNA changes (13 silent substitutions and 12 missense mutations) across 16 patients, with common variants occurring at similar frequencies in FCHL and control chromosomes.
Detected two novel mutations (Asp21-->Val and His44-->Tyr) in two patients, which showed no effect on in vitro LPL catalytic activity.
Established that mutations impairing LPL catalytic activity or other functions are not a frequent cause of FCHL.

Structured PICO

Do mutations in the LPL gene impair catalytic activity and lead to familial combined hyperlipidemia?

Population

31 unrelated individuals with familial combined hyperlipidemia (FCHL)

Intervention

Analysis of the LPL gene

Comparator

Control chromosomes

Outcome

Frequency and type of DNA changes in the LPL gene and their effect on LPL catalytic activitysurrogate

Variations in the coding region of the LPL gene are not a frequent cause of familial combined hyperlipidemia.

Cite This Study

Gagné et al. (1994) studied this question.

synapsesocial.com/papers/6a70119631a3df824328593d https://doi.org/10.1161/01.atv.14.8.1250

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Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia.

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia.

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

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