Key result
In two patients with hypertriglyceridemia, compound heterozygous LPL mutations (V200A or N291S with splice site mutations) resulted in absent LPL activity due to altered secretion or activity.
Why the study?
Type I hyperlipoproteinemia is a rare autosomal recessive disorder caused by LPL gene mutations, but the molecular mechanisms of specific mutations required investigation.
Population
Two patients with hypertriglyceridemia and compound heterozygous LPL mutations, plus transfected HEK 293T/17 cells
Comparison
Mutant LPL plasmids vs wild type LPL plasmids
Design
Ex vivo and in vitro mechanistic study
Authors
Loading...
Case reports link rare LPL variants to absent activity; hypothesis-generating and should not yet change practice.
Case Report (n=2)
No
The V200A and N291S mutations in the LPL gene are pathogenic, leading to absent LPL activity through impaired secretion and/or activity.
Botta et al. (2019) conducted a case report in Hypertriglyceridemia (n=2). LPL gene mutations (V200A, N291S, and splice site mutations) vs. Wild type (in vitro) was evaluated on LPL activity, production, secretion, and dimerization. In two patients with hypertriglyceridemia, compound heterozygous LPL mutations (V200A or N291S with splice site mutations) resulted in absent LPL activity due to altered secretion or activity.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: