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.
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|Data di pubblicazione:||2016|
|Titolo:||Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis|
|Autori:||Ariza, Marıa Jose; Martınez-Hernandez, Pedro Luis; Ibarretxe, Daiana; Rabacchi, Claudio; Rioja, Joseh; Grande-Aragon, Cristinah; Plana, Nuria; Tarugi, Patrizia; Olivecrona, Gunilla; Calandra, Sebastiano; Valdivielso, Pedro|
|Digital Object Identifier (DOI):||10.1016/j.jacl.2015.09.007|
|Appare nelle tipologie:||Articolo su rivista|
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