August 1, 1991Journal of Biological ChemistryOpen Access

Catalytic triad residue mutation (Asp156—-Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447—-Ter) in a Turkish family

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Population

Two brothers of Turkish descent with familial Type I hyperlipoproteinemia, normal plasma apolipoprotein C-II…

Comparison

In vitro expression of mutant lipoprotein lipases vs In vitro expression of wild type lipoprotein…

Design

Preclinical

Authors

FFFabrizia FaustinellaBaylor College of Medicine ACAnne M. ChangQueensland University of Technology JBJ.P. Van BiervlietBaylor College of Medicine

Discussion

Member takes

Implication

Asp156Gly abolishes LPL activity in models; supports variant classification but leaves open clinical genetic testing utility.

Structured PICO

Population

Two brothers of Turkish descent with familial Type I hyperlipoproteinemia, normal plasma apolipoprotein C-II levels, and undetectable plasma post-heparin lipoprotein lipase (LPL) activity; their family members; 224 unrelated normal Caucasians; and an in vitro COS cell model.

Intervention

In vitro expression of mutant lipoprotein lipases (Asp156->Gly, Ser447->Ter, Gly448->Ter, and Asp156->Gly/Ser447->Ter double mutant)

Comparator

In vitro expression of wild type lipoprotein lipase

Outcome

Lipoprotein lipase immunoreactive mass and enzyme activitysurrogate

The Asp156->Gly mutation in the catalytic triad of lipoprotein lipase abolishes enzyme activity and causes familial Type I hyperlipoproteinemia, while the Ser447->Ter nonsense mutation is a benign polymorphism.

Cite This Study

Faustinella et al. (1991) studied this question.

synapsesocial.com/papers/6a7170ec6c240de38cdc241f https://doi.org/10.1016/s0021-9258(18)98701-6

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Catalytic triad residue mutation (Asp156—-Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447—-Ter) in a Turkish family

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Catalytic triad residue mutation (Asp156—-Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447—-Ter) in a Turkish family

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider