889
Views
3
CrossRef citations to date
0
Altmetric
Editorial

Lessons from chylomicron retention disease: a potential new approach for the treatment of hypercholesterolemia?

References

  • Jones B, Jones EL, Bonney SA, et al. Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. Nat Genet. 2003;34(1):29–31.
  • Anderson CM, Townley RR, Freeman M, et al. Unusual causes of steatorrhoea in infancy and childhood. Med J Aust. 1961 Oct 14;48(2):617–622.
  • Barlowe C, Orci L, Yeung T, et al. COPII: a membrane coat formed by Sec proteins that drive vesicle budding from the endoplasmic reticulum. Cell. 1994;77:895–907.
  • Levy E, Spahis S, Garofalo C, et al. Sar1b transgenic male mice are more susceptible to high-fat diet-induced obesity, insulin insensitivity and intestinal chylomicron overproduction. J Nutr Biochem. 2014 May;25(5):540–548.
  • Sané AT, Seidman E, Peretti N, et al. Understanding chylomicron retention disease through Sar1b Gtpase gene disruption: insight from cell culture. Arterioscler Thromb Vasc Biol. 2017 Dec;37(12):2243–2251.
  • Levic DS, Minkel JR, Wang WD, et al. Animal model of Sar1b deficiency presents lipid absorption deficits similar to Anderson disease. J Mol Med (Berl). 2015 Feb;93(2):165–176.
  • Georges A, Bonneau J, Bonnefont-Rousselot D, et al. Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson’s disease (Chylomicron retention disease). Orphanet J Rare Dis. 2011 Jan 14;6:1.
  • Charcosset M, Sassolas A, Peretti N, et al. Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of SAR1B protein. Mol Genet Metab. 2008 Jan;93(1):74–84.
  • Peretti N, Roy CC, Sassolas A, et al. Chylomicron retention disease: a long term study of two cohorts. Mol Genet Metab. 2009;97:136–142.
  • Nielsen LB, Veniant M, Boren J, et al. Genes for apolipoprotein B and microsomal triglyceride transfer protein are expressed in the heart: evidence that the heart has the capacity to synthesize and secrete lipoproteins. Circulation. 1998;98:13–16.
  • Peretti N, Sassolas A, Roy CC, et al. Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. Orphanet J Rare Dis. 2010 Sep 29; 5(1):24.
  • Jacquemin E, Hermeziu B, Kibleur Y, et al. Bioavailability of oral vitamin E formulations in adult volunteers and children with chronic cholestasis or cystic fibrosis. J Clin Pharm Ther. 2009;34:515–522.
  • Papas K, Kalbfleisch J, Mohon R. Bioavailability of a novel, water-soluble vitamin E formulation in malabsorbing patients. Dig Dis Sci. 2007;52:347–352.
  • Cuerq C, Restier L, Drai J, et al. Establishment of reference values of α-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a rare genetic hypocholesterolemia. Orphanet J Rare Dis. 2016 Aug 12;11(1):114.
  • Sahebkar A, Watts GF. New therapies targeting apoB metabolism for high-risk patients with inherited dyslipidaemias: what can the clinician expect? Cardiovasc Drugs Ther. 2013 Dec;27(6):559–567.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.