Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia.

Risultato della ricerca: Article

17 Citazioni (Scopus)

Abstract

Objective: Familial hypobetalipoproteinemia (FHBL) is characterized by inherited low plasma levels of apolipoprotein B (apoB)-containing lipoproteins. In this paper we investigated whether the already described APOB R463W missense mutation, a FHBL mutation able to impair the activity of microsomal triglyceride transfer protein (MTP), may cause intestinal fat accumulation and reduced postprandial lipemia.Methods: Four out of five probands harboring APOB R463W mutation were compared with six healthy controls and six patients with celiac disease (CD). An oral fat load supplemented with retinyl palmitate (RP) was administered and a gastro-duodenal endoscopy with biopsy was performed. Results: Plasma triglyceride area under curves was significantly reduced in FHBL probands compared to controls and CD patients; the proportion of absorbed RP was similar to that of CD patients. Only the intestinal biopsies of FHBL patients showed lipids accumulating within the duodenal mucosa.Conclusions: FHBL due to R463W apoB mutation is a cause of intestinal fat accumulation and postprandial lipid absorption impairment.
Lingua originaleEnglish
pagine (da-a)193-198
Numero di pagine6
RivistaDefault journal
Volume2009
Stato di pubblicazionePublished - 2009

Fingerprint

Hypobetalipoproteinemias
Apolipoproteins B
Hyperlipidemias
Fats
Celiac Disease
Mutation
Lipids
Biopsy
Missense Mutation
Endoscopy
Lipoproteins
Area Under Curve
Mucous Membrane
Triglycerides
Familial Hypobetalipoproteinemia

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine

Cita questo

@article{c07f171afee6437c8b6c6db25a041576,
title = "Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia.",
abstract = "Objective: Familial hypobetalipoproteinemia (FHBL) is characterized by inherited low plasma levels of apolipoprotein B (apoB)-containing lipoproteins. In this paper we investigated whether the already described APOB R463W missense mutation, a FHBL mutation able to impair the activity of microsomal triglyceride transfer protein (MTP), may cause intestinal fat accumulation and reduced postprandial lipemia.Methods: Four out of five probands harboring APOB R463W mutation were compared with six healthy controls and six patients with celiac disease (CD). An oral fat load supplemented with retinyl palmitate (RP) was administered and a gastro-duodenal endoscopy with biopsy was performed. Results: Plasma triglyceride area under curves was significantly reduced in FHBL probands compared to controls and CD patients; the proportion of absorbed RP was similar to that of CD patients. Only the intestinal biopsies of FHBL patients showed lipids accumulating within the duodenal mucosa.Conclusions: FHBL due to R463W apoB mutation is a cause of intestinal fat accumulation and postprandial lipid absorption impairment.",
keywords = "B R463W, apolipoprotein",
author = "Maurizio Averna and Barbagallo, {Carlo Maria} and Antonio Pinto and Antonino Tuttolomondo and Vincenza Valenti and Cefalu', {Angelo Baldassare} and Giuseppe Licata and Alessandra Cannizzaro and Davide Noto and Francesca Fayer and Mariangela Mina'",
year = "2009",
language = "English",
volume = "2009",
pages = "193--198",
journal = "Default journal",

}

TY - JOUR

T1 - Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia.

AU - Averna, Maurizio

AU - Barbagallo, Carlo Maria

AU - Pinto, Antonio

AU - Tuttolomondo, Antonino

AU - Valenti, Vincenza

AU - Cefalu', Angelo Baldassare

AU - Licata, Giuseppe

AU - Cannizzaro, Alessandra

AU - Noto, Davide

AU - Fayer, Francesca

AU - Mina', Mariangela

PY - 2009

Y1 - 2009

N2 - Objective: Familial hypobetalipoproteinemia (FHBL) is characterized by inherited low plasma levels of apolipoprotein B (apoB)-containing lipoproteins. In this paper we investigated whether the already described APOB R463W missense mutation, a FHBL mutation able to impair the activity of microsomal triglyceride transfer protein (MTP), may cause intestinal fat accumulation and reduced postprandial lipemia.Methods: Four out of five probands harboring APOB R463W mutation were compared with six healthy controls and six patients with celiac disease (CD). An oral fat load supplemented with retinyl palmitate (RP) was administered and a gastro-duodenal endoscopy with biopsy was performed. Results: Plasma triglyceride area under curves was significantly reduced in FHBL probands compared to controls and CD patients; the proportion of absorbed RP was similar to that of CD patients. Only the intestinal biopsies of FHBL patients showed lipids accumulating within the duodenal mucosa.Conclusions: FHBL due to R463W apoB mutation is a cause of intestinal fat accumulation and postprandial lipid absorption impairment.

AB - Objective: Familial hypobetalipoproteinemia (FHBL) is characterized by inherited low plasma levels of apolipoprotein B (apoB)-containing lipoproteins. In this paper we investigated whether the already described APOB R463W missense mutation, a FHBL mutation able to impair the activity of microsomal triglyceride transfer protein (MTP), may cause intestinal fat accumulation and reduced postprandial lipemia.Methods: Four out of five probands harboring APOB R463W mutation were compared with six healthy controls and six patients with celiac disease (CD). An oral fat load supplemented with retinyl palmitate (RP) was administered and a gastro-duodenal endoscopy with biopsy was performed. Results: Plasma triglyceride area under curves was significantly reduced in FHBL probands compared to controls and CD patients; the proportion of absorbed RP was similar to that of CD patients. Only the intestinal biopsies of FHBL patients showed lipids accumulating within the duodenal mucosa.Conclusions: FHBL due to R463W apoB mutation is a cause of intestinal fat accumulation and postprandial lipid absorption impairment.

KW - B R463W

KW - apolipoprotein

UR - http://hdl.handle.net/10447/46802

M3 - Article

VL - 2009

SP - 193

EP - 198

JO - Default journal

JF - Default journal

ER -