June 1, 1991Journal of Clinical InvestigationOpen Access

Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.

View Full Paper

Ask AI

Bookmark

Population

3 unrelated probands with lipoprotein lipase (LPL) deficiency and in vitro COS-1 cell model

Design

Preclinical

Authors

HHHoward HendersonNational Health Laboratory Service YMYuxuan MaXinjiang Agricultural University MHM F HassanUniversity of British Columbia

Discussion

Member takes

Implication

Ile194Thr LPL mutation yields catalytically inactive enzyme; leaves open validation in human chylomicronemia cohorts before diagnostic or therapeutic use.

Structured PICO

Population

3 unrelated probands with lipoprotein lipase (LPL) deficiency and in vitro COS-1 cell model

Intervention

In vitro mutagenesis and transfection of COS-1 cells with LPL cDNA containing a T->C transition at codon 194 (Ile194->Thr substitution)

Outcome

Catalytic activity of the synthesized and secreted lipoprotein lipase proteinsurrogate

The Ile194->Thr substitution in exon 5 of the LPL gene causes lipoprotein lipase deficiency by producing a catalytically defective protein.

Cite This Study

Henderson et al. (1991) studied this question.

synapsesocial.com/papers/6a713094fe4101aa97e0790f https://doi.org/10.1172/jci115229

View Full Paper

Ask AI

Bookmark

Implication

Ile194Thr LPL mutation yields catalytically inactive enzyme; leaves open validation in human chylomicronemia cohorts before diagnostic or therapeutic use.

Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider