Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients.

Autor: Bordat C; Aix-Marseille Université, INRAE, INSERM, C2VN, Marseille, France (Dr Bordat, Halimi, Drs Vairo, Reboul); Univ-Lyon, CarMeN laboratory, INSERM U1060, INRAE 1397, Université Claude Bernard Lyon-1, Pierre Benite 69495, France (Drs Bordat, Peretti)., Cuerq C; Biochemistry Department, Hospices Civils de Lyon, Pierre-Benite 69495, France (Drs Cuerq, Blond)., Halimi C; Aix-Marseille Université, INRAE, INSERM, C2VN, Marseille, France (Dr Bordat, Halimi, Drs Vairo, Reboul)., Vairo D; Aix-Marseille Université, INRAE, INSERM, C2VN, Marseille, France (Dr Bordat, Halimi, Drs Vairo, Reboul)., Blond E; Biochemistry Department, Hospices Civils de Lyon, Pierre-Benite 69495, France (Drs Cuerq, Blond)., Restier L; Pediatric Hepato-Gastroenterology and Nutrition Unit, Hôpital Femme Mère Enfant de Lyon HFME, Hospices Civils de Lyon HCL, Bron 69677, France (Drs Restier, Poinsot, Duclaux-Loras, Peretti)., Poinsot P; Pediatric Hepato-Gastroenterology and Nutrition Unit, Hôpital Femme Mère Enfant de Lyon HFME, Hospices Civils de Lyon HCL, Bron 69677, France (Drs Restier, Poinsot, Duclaux-Loras, Peretti)., Duclaux-Loras R; Pediatric Hepato-Gastroenterology and Nutrition Unit, Hôpital Femme Mère Enfant de Lyon HFME, Hospices Civils de Lyon HCL, Bron 69677, France (Drs Restier, Poinsot, Duclaux-Loras, Peretti)., Peretti N; Univ-Lyon, CarMeN laboratory, INSERM U1060, INRAE 1397, Université Claude Bernard Lyon-1, Pierre Benite 69495, France (Drs Bordat, Peretti); Pediatric Hepato-Gastroenterology and Nutrition Unit, Hôpital Femme Mère Enfant de Lyon HFME, Hospices Civils de Lyon HCL, Bron 69677, France (Drs Restier, Poinsot, Duclaux-Loras, Peretti); CENS ELI-2D, 165 Chemin du Grand Revoyet, Pierre Bénite F - 69310, France (Dr Peretti)., Reboul E; Aix-Marseille Université, INRAE, INSERM, C2VN, Marseille, France (Dr Bordat, Halimi, Drs Vairo, Reboul). Electronic address: Emmanuelle.Reboul@univ-amu.fr.
Jazyk: angličtina
Zdroj: Journal of clinical lipidology [J Clin Lipidol] 2024 Jan-Feb; Vol. 18 (1), pp. e105-e115. Date of Electronic Publication: 2023 Nov 04.
DOI: 10.1016/j.jacl.2023.10.010
Abstrakt: Background: Familial hypobetalipoproteinemias (FHBL) are rare genetic diseases characterized by lipid malabsorption. We focused on abetalipoproteinemia (FHBL-SD1) and chylomicron retention disease (FHBL-SD3), caused by mutations in microsomal triglyceride transfer protein (MTTP) and SAR1B genes, respectively. Treatments include a low-fat diet and high-dose fat-soluble vitamin supplementations. However, patients are not supplemented in carotenoids, a group of lipid-soluble pigments essential for eye health.
Objective: Our aim was to evaluate carotenoid absorption and status in the context of hypobetalipoproteinemia.
Methods: We first used knock-out Caco-2/TC7 cell models of FHBL-SD1 and FHBL-SD3 to evaluate carotenoid absorption. We then characterized FHBL-SD1 and FHBL-SD3 patient status in the main dietary carotenoids and compared it to that of control subjects.
Results: In vitro results showed a significant decrease in basolateral secretion of α- and β-carotene, lutein, and zeaxanthin (-88.8 ± 2.2 % to -95.3 ± 5.8 %, -79.2 ± 4.4 % to -96.1 ± 2.6 %, -91.0 ± 4.5 % to -96.7 ± 0.3 % and -65.4 ± 3.6 % to -96.6 ± 1.9 %, respectively). Carotenoids plasma levels in patients confirmed significant deficiencies, with decreases ranging from -89 % for zeaxanthin to -98 % for α-carotene, compared to control subjects.
Conclusion: Given the continuous loss in visual function despite fat-soluble vitamin treatment in some patients, carotenoid supplementation may be of clinical utility. Future studies should assess the correlation between carotenoid status and visual function in aging patients and investigate whether carotenoid supplementation could prevent their visual impairment.
Competing Interests: Declaration of Competing Interest None.
(Copyright © 2023 National Lipid Association. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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