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Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis

Ariza, María José, PhD ; Martínez-Hernández, Pedro Luis, MD, PhD ; Ibarretxe, Daiana, MD ; Rabacchi, Claudio, PhD ; Rioja, José, PhD ; Grande-Aragón, Cristina, PhD ; Plana, Nuria, MD, PhD ; Tarugi, Patrizia, PhD ; Olivecrona, Gunilla, PhD ; Calandra, Sebastiano, MD ; Valdivielso, Pedro, MD, PhD

Journal of clinical lipidology, 2016, Vol.10 (1), p.92-100.e1 [Periódico revisado por pares]

United States: Elsevier Inc

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Título:
Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis
Autor: Ariza, María José, PhD ; Martínez-Hernández, Pedro Luis, MD, PhD ; Ibarretxe, Daiana, MD ; Rabacchi, Claudio, PhD ; Rioja, José, PhD ; Grande-Aragón, Cristina, PhD ; Plana, Nuria, MD, PhD ; Tarugi, Patrizia, PhD ; Olivecrona, Gunilla, PhD ; Calandra, Sebastiano, MD ; Valdivielso, Pedro, MD, PhD
Assuntos: Acute Disease ; Adolescent ; Adult ; Base Sequence ; Cardiovascular ; Child ; Female ; Glycosylphosphatidy-linositol-anchored high-density lipoprotein binding protein 1 (GPIHBP1) ; Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) ; Humans ; Hypertriglyceridemia - complications ; Hypertriglyceridemia - genetics ; Lipoprotein lipase activity ; Male ; Mutation, Missense ; Pancreatitis - complications ; Pancreatitis - genetics ; Receptors, Lipoprotein - genetics ; Recurrence ; Recurrent pancreatitis ; Severe hypertriglyceridemia ; Severe pertriglyceridemia ; Young Adult
É parte de: Journal of clinical lipidology, 2016, Vol.10 (1), p.92-100.e1
Notas: ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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Descrição: 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.
Editor: United States: Elsevier Inc
Idioma: Inglês

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Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis

United States: Elsevier Inc

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