Evidence for genetic susceptibility to the alcohol dependence syndrome from the thiamine transporter 2 gene solute carrier SLC19A3
نویسندگان
چکیده
syndrome from the thiamine transporter 2 gene solute carrier SLC19A3 Giorgia Quadri, Andrew McQuillin, Irene Guerrini, Allan D. Thomson, Raquin Cherian, Jit Saini, Kush Ruparelia, Greg J. Lydall, David Ball, Iain Smith, Michael Way, Katherine Kasiakogia-Worlley, Shamir Patel, Girija Kottalgi, Priyanthi Gunawardena, Harish Rao, Audrey Hillman, Ewen Douglas, Sherzhad Y. Qureshi, Gerry Reynolds, Sameer Jauhar, Aideen O’Kane, Sally Sharp, Radhika Kandaswamy, Karim Dar, David Curtis, Marsha Y. Morgan and Hugh M.D. Gurling*
منابع مشابه
Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review
Solute carrier family 19 (thiamine transporter), member 3 (SCL19A3) gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms. One of the common presentations is early infantile lethal Leigh-like syndrome. We report a case of early infantile Leigh-like SLC19A3 gene defects of patients who died at 4 months of age with no response to ...
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Thiamine transporter-2 deficiency is caused by mutations in the SLC19A3 gene. As opposed to other causes of Leigh syndrome, early administration of thiamine and biotin has a dramatic and immediate clinical effect. New biochemical markers are needed to aid in early diagnosis and timely therapeutic intervention. Thiamine derivatives were analysed by high performance liquid chromatography in 106 w...
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AIMS In the scientific literature it has been repeatedly hypothesized that there is a heritable susceptibility to thiamine deficiency comparable to other hereditary metabolic disorders. The aim of this paper is to review the most recent knowledge on the genetic susceptibility to the development of alcohol-related Wernicke-Korsakoff syndrome (WKS). METHODS A literature review was carried out l...
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Leigh syndrome is an early onset, often fatal progressive neurodegenerative disorder caused by mutations in the mitochondrial or nuclear DNA. Until now, mutations in more than 35 genes have been reported to cause Leigh syndrome, indicating an extreme genetic heterogeneity for this disorder, but still only explaining part of the cases. The possibility of whole exome sequencing enables not only m...
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Thiamin is important for normal function of pancreatic acinar cells, but little is known about its mechanism of uptake and about the effect of chronic alcohol use on the process. We addressed these issues using freshly isolated rat primary and rat-derived cultured AR42J pancreatic acinar cells as models. Results showed thiamin uptake by both primary and cultured AR42J pancreatic acinar cells to...
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