What question did this study set out to answer?

To investigate the genetic, clinical, and metabolic characteristics of individuals with familial combined hypolipidemia.

June 2, 2012The Journal of Clinical Endocrinology & MetabolismOpen Access

Mutations in theANGPTL3Gene and Familial Combined Hypolipidemia: A Clinical and Biochemical Characterization

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Why the study?

Does ANGPTL3 mutation carrier status reduce plasma lipids in individuals from a general community?

Population

Individuals belonging to nine families with familial combined hypolipidemia identified in a small town and…

Comparison

ANGPTL3 gene mutation carrier status vs Noncarrier individuals

Design

Cross-sectional

Authors

IMIlenia MinicocciPoliclinico Umberto I AMAnna MontaliSapienza University of Rome MRMarius R. RobciucUniversity of Helsinki

Discussion

Member takes

Implication

ANGPTL3 S17X homozygosity was associated with profound hypolipidemia without apparent clinical sequelae; extends genetic evidence on lipid regulation but leaves causal CVD effects open.

Key Points

To investigate the genetic, clinical, and metabolic characteristics of individuals with familial combined hypolipidemia.
Screened candidate genes across members of 9 families with familial combined hypolipidemia and 352 additional community residents in Campodimele.
Measured and compared serum concentrations of lipoproteins, Angptl3 proteins, and noncholesterol sterols between mutation carriers and noncarriers.
Identified the ANGPTL3 S17X mutation in probands, 20 relatives, and 32 community members, along with two additional frameshift mutations (FsE96del and FsS122).
ANGPTL3 S17X homozygotes had complete absence of circulating Angptl3 and marked reductions in all plasma lipids (P < 0.001), while heterozygotes had a 42% reduction in Angptl3 (P < 0.0001) alongside lower total and HDL cholesterol.
Plasma noncholesterol sterols did not differ between carriers and noncarriers, and no association was detected between hypolipidemia and hepatic or cardiovascular disease.

Structured PICO

Does ANGPTL3 mutation carrier status reduce plasma lipids in individuals from a general community?

Population

Individuals belonging to nine families with familial combined hypolipidemia identified in a small town (Campodimele) and 352 other subjects living in the same community.

Intervention

ANGPTL3 gene mutation carrier status (S17X, FsE96del, FsS122)

Comparator

Noncarrier individuals

Outcome

Serum concentrations of lipoproteins, Angiopoietin-like 3 (Angptl3) proteins, and noncholesterol sterolssurrogate

Familial combined hypolipidemia caused by ANGPTL3 mutations segregates as a recessive trait, leading to reduced plasma lipids without perturbing whole-body cholesterol homeostasis or increasing the risk of adverse clinical sequelae.

Cite This Study

Minicocci et al. (2012) studied this question.

synapsesocial.com/papers/6a7100e9f44fa9f079dec3c8 https://doi.org/10.1210/jc.2012-1298

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Implication

ANGPTL3 S17X homozygosity was associated with profound hypolipidemia without apparent clinical sequelae; extends genetic evidence on lipid regulation but leaves causal CVD effects open.

Mutations in theANGPTL3Gene and Familial Combined Hypolipidemia: A Clinical and Biochemical Characterization

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

Mutations in theANGPTL3Gene and Familial Combined Hypolipidemia: A Clinical and Biochemical Characterization

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

Also Consider

Also Consider