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Báo cáo khoa hoc:" Failure to confirm influence of Methyltetrahydrofolate reductase (MTHFR) polymorphisms on age at onset of Huntington disease"

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Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Failure to confirm influence of Methyltetrahydrofolate reductase (MTHFR) polymorphisms on age at onset of Huntington disease | Journal of Negative Results in BioMedicine BioMed Central Research Open Access Failure to confirm influence of Methyltetrahydrofolate reductase MTHFR polymorphisms on age at onset of Huntington disease Wiebke Hansen1 Carsten Saft2 Jurgen Andrich2 Thomas Muller2 Stefan Wieczorek1 Jorg T Epplen1 and Larissa Arning 1 Address Department of Human Genetics Ruhr-University 44780 Bochum Germany and 2Department of Neurology St. Josef-Hospital Ruhr-University 44791 Bochum Germany Email Wiebke Hansen - wiebke.hansen@rub.de Carsten Saft - carsten.saft@cityweb.de Jurgen Andrich - juergen.andrich@rub.de Thomas Muller - thomas.mueller@rub.de Stefan Wieczorek - stefan.wieczorek@rub.de JorgT Epplen - joerg.t.epplen@rub.de Larissa Arning - larissa.arning@rub.de Corresponding author Published 22 December 2005 Received 24 May 2005 Accepted 22 December 2005 Journal of Negative Results in BioMedicine 2005 4 12 doi l0.ll86 1477-5751-4-12 r This article is available from http www.jnrbm.cOm content 4 1 12 2005 Hansen et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http creativecommons.org licenses by 2.0 which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Background Huntington disease HD is a fully penetrant autosomal dominantly inherited disorder associated with abnormal expansions of a stretch of perfect CAG repeats in the 5 part of the ITI5 gene. The number of repeat units is highly predictive for the age at onset AO of the disorder. But AO is only modestly correlated with repeat length when intermediate HD expansions are considered. Recently suggestive association has been reported between a single nucleotide polymorphism SNP rsl80l 131 also known as A1298C in the methyltetrahydrofolate reductase MTHFR gene and AO of HD. 5 10-MTHFR is a key enzyme in the folate metabolism diverting metabolites toward methylation .

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