Author, as appears in the article.: Ariza M; Martínez-Hernández P; Ibarretxe D; Rabacchi C; Rioja J; Grande-Aragón C; Plana N; Tarugi P; Olivecrona G; Calandra S; Valdivielso P
Department: Medicina i Cirurgia
URV's Author/s: Ibarretxe Gerediaga, Daiana / Plana Gil, Núria
Keywords: Substitution Severe hypertriglyceridemia Recurrent pancreatitis Multimerization Lpl Lipoprotein-lipase gene Lipoprotein lipase activity Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (gpihbp1) Glycosylphosphatidy-linositol-anchored high-density lipoprotein binding protein 1 (gpihbp1) Familial chylomicronemia Deletion Deficiency Binding protein-1 gpihbp1 Apoa5 recurrent pancreatitis lipoprotein lipase activity glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (gpihbp1)
Abstract: © 2016 National Lipid Association. Background Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) has been demonstrated to be essential for the in vivo function of lipoprotein lipase (LPL), the major triglyceride (TG)-hydrolyzing enzyme involved in the intravascular lipolysis of TG-rich lipoproteins. Recently, loss-of-function mutations of GPIHBP1 have been reported as the cause of type I hyperlipoproteinemia in several patients. Methods Two unrelated patients were referred to our Lipid Units because of a severe hypertriglyceridemia and recurrent pancreatitis. We measured LPL activity in postheparin plasma and serum ApoCII and sequenced LPL, APOC2, and GPIHBP1. Results The 2 patients exhibited very low LPL activity not associated with mutations in LPL gene or with ApoCII deficiency. The sequence of GPIHBP1 revealed 2 novel point mutations. One patient (proband 1) was found to be homozygous for a C>A transversion in exon 3 resulting in the conversion of threonine to lysine at position 80 (p.Thr80Lys). The other patient (proband 2) was found to be homozygous for a G>T transversion in the third base of the ATG translation initiation codon in exon 1, resulting in the conversion of methionine to isoleucine (p.Met1Ile). Conclusion In conclusion, we have identified 2 novel GPIHBP1 missense mutations in 2 unrelated patients as the cause of their severe hypertriglyceridemia.
Thematic Areas: Saúde coletiva Pharmacology & pharmacy Nutrition and dietetics Nutrição Medicina ii Medicina i Internal medicine Interdisciplinar Farmacia Endocrinology, diabetes and metabolism Educação física Ciências biológicas ii Cardiology and cardiovascular medicine
licence for use: https://creativecommons.org/licenses/by/3.0/es/
ISSN: 19332874
Author identifier: 0000-0002-4231-7618
Author's mail: daiana.ibarretxe@urv.cat
Record's date: 2024-09-07
Papper version: info:eu-repo/semantics/acceptedVersion
Licence document URL: https://repositori.urv.cat/ca/proteccio-de-dades/
Papper original source: Journal Of Clinical Lipidology. 10 (1): 92-100.e1
APA: Ariza M; Martínez-Hernández P; Ibarretxe D; Rabacchi C; Rioja J; Grande-Aragón C; Plana N; Tarugi P; Olivecrona G; Calandra S; Valdivielso P (2016). Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis. Journal Of Clinical Lipidology, 10(1), 92-100.e1. DOI: 10.1016/j.jacl.2015.09.007
Entity: Universitat Rovira i Virgili
Journal publication year: 2016
Publication Type: Journal Publications
Repositori URV