Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency

Annals of Neurology
A Hentati Ahmed

Abstract

Familial vitamin E deficiency (AVED) causes ataxia and peripheral neuropathy that resembles Friedreich's ataxia. AVED is thought to be caused by a defect in the transport of vitamin E in liver cells, which is the probable function of alpha-tocopherol transfer protein (alphaTTP). We have cloned the cDNA and several genomic phage clones covering the entire human alphaTTP gene and determined the junctions between the five exons and four introns that composed the gene for human alphaTTP. Three mutations in three unrelated North American families with AVED were identified. Two mutations, 485delT and 513insTT, cause a frame shift and a premature stop codon and the third mutation 574G-->A would substitute Arg192 to His in alphaTTP. The 2 patients with a severe form of AVED were homozygous with 485delT and 513insTT, respectively, while the patient with a mild form of the disease was compound heterozygous with 513insTT and 574G-->A. These findings have identified the underlying genetic defect in AVED and have confirmed the role of alphaTTP in AVED.

References

Jan 1, 1989·Free Radical Research Communications·A Chatterjee
Jan 1, 1989·Free Radical Biology & Medicine·R J Sokol
Jul 4, 1985·The New England Journal of Medicine·A E HardingD P Muller

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Citations

Jul 20, 2010·Der Nervenarzt·C ZühlkeK Bürk
Mar 26, 2011·Genes & Nutrition·Ping Tou Gee
Sep 5, 2001·Neurologic Clinics·H Paulson, Z Ammache
May 22, 2003·Free Radical Biology & Medicine·Petra KempnáAngelo Azzi
Feb 7, 1998·Current Opinion in Neurobiology·M Koenig, J L Mandel
May 7, 2008·The Journal of Biological Chemistry·Samantha MorleyDanny Manor
Sep 25, 2001·Journal of Pediatric Gastroenterology and Nutrition·J M AparicioH Escobar
Dec 27, 2013·Brain : a Journal of Neurology·Ghada El Euch-FayacheFayçal Hentati
Dec 6, 2003·Proceedings of the National Academy of Sciences of the United States of America·K Christopher MinWayne A Hendrickson
May 14, 2010·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·I Di DonatoA Federico
Nov 30, 2000·Proceedings of the National Academy of Sciences of the United States of America·Y TerasawaR V Farese
Aug 1, 2008·Nutrition Reviews·Jean-Marc ZinggMohsen Meydani
Jul 18, 2015·Annual Review of Nutrition·Jean-Marc Zingg
Feb 23, 2012·Scientific Reports·Ramachandra M Bhaskara, Narayanaswamy Srinivasan
Jul 13, 2007·Molecular Aspects of Medicine·Jean-Marc Zingg
Jul 19, 2005·Journal of Lipid Research·Jinghui QianDanny Manor
Jan 8, 1999·Stroke; a Journal of Cerebral Circulation·S G SorianoT N Mayadas
Dec 18, 2018·Movement Disorders : Official Journal of the Movement Disorder Society·Darius Ebrahimi-FakhariAlexander Münchau
Feb 20, 2010·Molecular Nutrition & Food Research·Jean-Marc ZinggAngelo Azzi
Dec 1, 2006·Nutrition Research Reviews·Regina Brigelius-Flohé
Apr 7, 2004·Journal of Biomedical Science·Ching Kuang Chow
Aug 27, 2019·Therapeutic Advances in Neurological Disorders·Jo M WilmshurstMonique M Ryan
Jun 18, 1998·Arquivos de neuro-psiquiatria·W O Arruda, H A Teive
Sep 27, 2002·The American Journal of Clinical Nutrition·Regina Brigelius-FlohéAngelo Azzi
Aug 25, 2018·Current Developments in Nutrition·Matthew J KuchanSheila M Innis
Sep 27, 2020·Acta neurologica Belgica·Marwa MaalejFaiza Fakhfakh
May 1, 2021·Animals : an Open Access Journal From MDPI·Satoshi HagaSanggun Roh
May 9, 2000·Progress in Lipid Research·A Azzi, A Stocker
Feb 6, 1999·Bioorganic & Medicinal Chemistry Letters·H LeiJ K Atkinson
Apr 13, 2007·Biochimica Et Biophysica Acta·Kan SaitoTomas Mustelin
May 2, 2000·The Journal of Organic Chemistry·H Lei, J Atkinson

❮ Previous
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