Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia

Free Radical Biology and Medicine

Volumn 88, Issue , 2015, Pages 59-62

  Burnett, John R ^a,b   Hooper, Amanda J ^a,b,c  

^a ROYAL PERTH HOSPITAL   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

Abetalipoproteinemia; Familial hypobetalipoproteinemia; Hypocholesterolemia; Neuropathy; Oxidative stress; Vitamin E

Indexed keywords

ALPHA TOCOPHEROL; HIGH DENSITY LIPOPROTEIN; RETINOL; SCAVENGER RECEPTOR BI;

ABETALIPOPROTEINEMIA; ARTICLE; CLINICAL FEATURE; DISEASE COURSE; DRUG MEGADOSE; FAMILIAL HYPOBETALIPOPROTEINEMIA; HUMAN; HYPOBETALIPOPROTEINEMIA; LIPID PEROXIDATION; LOW FAT DIET; OXIDATIVE STRESS; PRIORITY JOURNAL; RETINA DEGENERATION; THROMBOCYTE AGGREGATION; VITAMIN DEFICIENCY; VITAMIN SUPPLEMENTATION; BLOOD; GENETICS; HETEROZYGOTE; HOMOZYGOTE; HYPOBETALIPOPROTEINEMIAS; PATHOPHYSIOLOGY;

ABETALIPOPROTEINEMIA; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPOBETALIPOPROTEINEMIAS; OXIDATIVE STRESS; VITAMIN E;

EID: 84942989546     PISSN: 08915849     EISSN: 18734596     Source Type: Journal    
DOI: 10.1016/j.freeradbiomed.2015.05.044     Document Type: Review

References (42)

1. A.J. Hooper, F.M. van Bockxmeer, and J.R. Burnett Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism Crit. Rev. Clin. Lab. Sci. 42 2005 515 545
2. A.J. Hooper, and J.R. Burnett Update on primary hypobetalipoproteinemia Curr. Atheroscler. Rep 16 2014 423
3. F.K. Welty Hypobetalipoproteinemia and abetalipoproteinemia Curr. Opin. Lipidol 25 2014 161 168
4. J.R. Burnett, D.A. Bell, A.J. Hooper, and R.A. Hegele Clinical utility gene card for: abetalipoproteinaemia Eur. J. Hum. Genet. 2014 10.1038/ejhg.2014.1224
5. J.R. Burnett, D.A. Bell, A.J. Hooper, and R.A. Hegele Clinical utility gene card for: familial hypobetalipoproteinaemia (APOB) Eur. J. Hum. Genet. 2014 10.1038/ejhg.2014.1225
6. J.R. Wetterau, L.P. Aggerbeck, M.E. Bouma, and et al. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia Science 258 1992 999 1001
7. C.C. Shoulders, D.J. Brett, J.D. Bayliss, and et al. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein Hum. Mol. Genet 2 1993 2109 2116
8. M.M. Hussain, P. Rava, M. Walsh, M. Rana, and J. Iqbal Multiple functions of microsomal triglyceride transfer protein Nutr. Metab. (Lond.) 9 2012 14
9. K. Ohashi, S. Ishibashi, J. Osuga, and et al. Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia J. Lipid Res. 41 2000 1199 1204
10. E.F. Rehberg, M.E. Samson-Bouma, B. Kienzle, and et al. A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase J. Biol. Chem. 271 1996 29945 29952
11. S.A. Miller, J.R. Burnett, M.A. Leonis, C.J. McKnight, F.M. van Bockxmeer, and A.J. Hooper Novel missense MTTP gene mutations causing abetalipoproteinemia Biochim. Biophys. Acta 1842 2014 1548 1554
12. N. Berriot-Varoqueaux, L.P. Aggerbeck, M. Samson-Bouma, and J.R. Wetterau The role of the microsomal triglyceride transfer protein in abetalipoproteinemia Annu. Rev. Nutr 20 2000 663 697
13. J.P. Kane, and R.J. Havel Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins C.R. Scriver, A.L. Beaudet, W.S. Sly, The metabolic and molecular bases of inherited disease 2001 McGraw-Hill New York 2717 2752
14. M.C. Tanyel, and L.D. Mancano Neurologic findings in vitamin E deficiency Am. Fam. Physician 55 1997 197 201
15. R. Zamel, R. Khan, R.L. Pollex, and R.A. Hegele Abetalipoproteinemia: two case reports and literature review Orphanet. J. Rare Dis. 3 2008 19
16. J. Lee, and R.A. Hegele Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management J. Inherit. Metab. Dis. 37 2014 333 339
17. G. Schonfeld, X. Lin, and P. Yue Familial hypobetalipoproteinemia: genetics and metabolism Cell Mol. Life Sci. 62 2005 1372 1378
18. P. Tarugi, and M. Averna Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum Adv. Clin. Chem 54 2011 81 107
19. A.J. Whitfield, P.H.R. Barrett, F.M. van Bockxmeer, and J.R. Burnett Lipid disorders and mutations in the APOB gene Clin. Chem. 50 2004 1725 1732
20. J.R. Burnett, J. Shan, B.A. Miskie, and et al. A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia J. Biol. Chem. 278 2003 13442 13452
21. J.R. Burnett, S. Zhong, Z.G. Jiang, and et al. Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of apoB and apoB-containing lipoproteins in familial hypobetalipoproteinemia J. Biol. Chem. 282 2007 24270 24283
22. R.R. Sankatsing, S.W. Fouchier, S. de Haan, and et al. Hepatic and cardiovascular consequences of familial hypobetalipoproteinemia Arterioscler. Thromb. Vasc. Biol. 25 2005 1979 1984
23. H. Ogata, K. Akagi, M. Baba, and et al. Fatty liver in a case with heterozygous familial hypobetalipoproteinemia Am. J. Gastroenterol. 92 1997 339 342
24. G. Schonfeld, B.W. Patterson, D.A. Yablonskiy, and et al. Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis J. Lipid Res. 44 2003 470 478
25. T. Tanoli, P. Yue, D. Yablonskiy, and G. Schonfeld Fatty liver in familial hypobetalipoproteinemia: roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity J. Lipid Res. 45 2004 941 947
26. I. Chowers, E. Banin, S. Merin, M. Cooper, and E. Granot Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients Eye 15 2001 525 530
27. M.W. Clarke, J.R. Burnett, and K.D. Croft Vitamin E in human health and disease Crit. Rev. Clin. Lab. Sci. 45 2008 417 450
28. M.G. Traber Mechanisms for the prevention of vitamin E excess J. Lipid Res. 54 2013 2295 2306
29. L. Ulatowski, and D. Manor Vitamin E trafficking in neurologic health and disease Annu. Rev. Nutr. 33 2013 87 103
30. I. Di Donato, S. Bianchi, and A. Federico Ataxia with vitamin E deficiency: update of molecular diagnosis Neurol. Sci. 31 2010 511 515
31. M.W. Clarke, A.J. Hooper, H.A. Headlam, J.H. Wu, K.D. Croft, and J.R. Burnett Assessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemia Clin. Chem 52 2006 1339 1345
32. S. Bishara, S. Merin, M. Cooper, E. Azizi, G. Delpre, and R.J. Deckelbaum Combined vitamin A and E therapy prevents retinal electrophysiological deterioration in abetalipoproteinaemia Br. J. Ophthalmol. 66 1982 767 770
33. D.P. Muller Vitamin E and neurological function Mol. Nutr. Food Res. 54 2010 710 718
34. R.J. Deckelbaum, S. Eisenberg, Y. Oschry, M. Cooper, and C. Blum Abnormal high density lipoproteins of abetalipoproteinemia: relevance to normal HDL metabolism J. Lipid Res. 23 1982 1274 1282
35. C. Mineo, and P.W. Shaul Novel biological functions of high-density lipoprotein cholesterol Circ. Res. 111 2012 1079 1090
36. G.A. Francis High density lipoprotein oxidation: in vitro susceptibility and potential in vivo consequences Biochim. Biophys. Acta 1483 2000 217 235
37. M.F. Muldoon, S.B. Kritchevsky, R.W. Evans, and V.E. Kagan Serum total antioxidant activity in relative hypo- and hypercholesterolemia Free Radic. Res. 25 1996 239 245
38. E. Granot, and R. Kohen Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation Am. J. Clin. Nutr. 79 2004 226 230
39. C. Calzada, E. Vericel, R. Colas, and et al. Inhibitory effects of in vivo oxidized high-density lipoproteins on platelet aggregation: evidence from patients with abetalipoproteinemia FASEB J. 27 2013 2855 2861
40. M.F. Linton, R.V. Farese, and S.G. Young Familial hypobetalipoproteinemia J. Lipid Res. 34 1993 521 541
41. K.A. Rye, and P.J. Barter Cardioprotective functions of HDLs J. Lipid Res. 55 2014 168 179
42. G. Davi, and C. Patrono Platelet activation and atherothrombosis N. Engl. J. Med. 357 2007 2482 2494