Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization.

Hata, Akira; Ridinger, David; Sutherland, Sarah; Emi, Mitsuru; Kwong, Linda K.; Shuhua, J; Lubbers, A; Guy‐Grand, Bernard; Basdevant, Arnaud; Iverius, Per-Henrik

doi:10.1016/s0021-9258(19)88676-3

Cited by 40 publications

(5 citation statements)

References 61 publications

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“…The preservation of triolein activity in mutant K therefore most likely reflects a more stable LPL homodimer. The reduction of lipase and esterase activities in mutant F was too large to include it in the LPL stability assay, but it is probable that the mutation led to a reduced formation and/or stability of the LPL dimer, as has been shown for mutations at positions 176, 188, 195, and 244 in the amino-terminal domain (28) and at position 410 in the carboxy-terminal domain (29).…”

Section: Discussionmentioning

confidence: 96%

Novel site in lipoprotein lipase (LPL415–438) essential for substrate interaction and dimer stability

Keiper

Schneider

Dugi

2001

Journal of Lipid Research

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Section: Discussionmentioning

confidence: 96%

Novel site in lipoprotein lipase (LPL415–438) essential for substrate interaction and dimer stability

Keiper

Schneider

Dugi

2001

Journal of Lipid Research

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“…Finally, LPL variant rs118204057 has multiple reports associated with hyperlipidemia and hyperlipoproteinemia pathology and protein function ( Monsalve et al, 1990 ; Hata et al, 1992 ; Henderson et al, 1992 ; Mailly et al, 1997 ; Gilbert et al, 2001 ; Soto et al, 2015 ; Ashraf et al, 2017 ; Caddeo et al, 2018 ). Moreover, population frequencies are low (ALL 0.019%, 0.14% AMR, 0.58% CR-WGS), and it was detected in one individual with severe hyperlipidemia from Costa Rica ( González-Cordero, 2018 ).…”

Section: Discussionmentioning

confidence: 99%

Frequencies of variants in genes associated with dyslipidemias identified in Costa Rican genomes

et al. 2023

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Dyslipidemias are risk factors in diseases of significant importance to public health, such as atherosclerosis, a condition that contributes to the development of cardiovascular disease. Unhealthy lifestyles, the pre-existence of diseases, and the accumulation of genetic variants in some loci contribute to the development of dyslipidemia. The genetic causality behind these diseases has been studied primarily on populations with extensive European ancestry. Only some studies have explored this topic in Costa Rica, and none have focused on identifying variants that can alter blood lipid levels and quantifying their frequency. To fill this gap, this study focused on identifying variants in 69 genes involved in lipid metabolism using genomes from two studies in Costa Rica. We contrasted the allelic frequencies with those of groups reported in the 1000 Genomes Project and gnomAD and identified potential variants that could influence the development of dyslipidemias. In total, we detected 2,600 variants in the evaluated regions. However, after various filtering steps, we obtained 18 variants that have the potential to alter the function of 16 genes, nine variants have pharmacogenomic or protective implications, eight have high risk in Variant Effect Predictor, and eight were found in other Latin American genetic studies of lipid alterations and the development of dyslipidemia. Some of these variants have been linked to changes in blood lipid levels in other global studies and databases. In future studies, we propose to confirm at least 40 variants of interest from 23 genes in a larger cohort from Costa Rica and Latin American populations to determine their relevance regarding the genetic burden for dyslipidemia. Additionally, more complex studies should arise that include diverse clinical, environmental, and genetic data from patients and controls and functional validation of the variants.

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“…The origin of this change is not clear and has been identified in different ethnic groups around the World and the G125E mutation has been reported to cause complete loss of catalytic activity of LPL. It has been associated with familial LPL deficiency in homozygous or compound heterozygous state and hyperlipoproteinemia in heterozygous state (15)(16)(17). Each of the remaining 11 mutations were detected in only one patient.…”

Section: Discussionmentioning

confidence: 99%

Şiddetli hipertrigliseridemili hastalarda lipoprotein lipaz mutasyon prevalansı ve hipertrigliseridemik pankreatitin karakteristik özellikleri

et al. 2022

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Aim: We conducted a retrospective study with the aim of determining the prevalence of lipoprotein lipase (LPL) mutation in patients with severe hypertriglyceridemia (HTG) and to study differences in characteristic features of HTG induced acute pancreatitis (AP). Materials and Methods: Seventy adults with a serum triglyceride (TG) level ≥500 mg/dL were included in the study. Baseline characteristics, LPL mutation and risk factors between those with and without HTG-AP were compared. Results: The mean age was 43 ± 12 years, and males accounted for 55.7%. Of the patients 35 had TG level

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Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization.

Cited by 40 publications

References 61 publications

Novel site in lipoprotein lipase (LPL415–438) essential for substrate interaction and dimer stability

Novel site in lipoprotein lipase (LPL415–438) essential for substrate interaction and dimer stability

Frequencies of variants in genes associated with dyslipidemias identified in Costa Rican genomes

Şiddetli hipertrigliseridemili hastalarda lipoprotein lipaz mutasyon prevalansı ve hipertrigliseridemik pankreatitin karakteristik özellikleri

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