Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism.

作者: C. T. Correia , A. M. Coutinho , A. F. Sequeira , I. G. Sousa , L. Lourenço Venda

DOI: 10.1111/J.1601-183X.2010.00627.X

关键词:

摘要: The brain-derived neurotrophic factor (BDNF), a neurotrophin fundamental for brain development and function, has previously been implicated in autism. In this study, the levels of BDNF platelet-rich plasma were compared between autistic control children, role two genetic factors that might regulate contribute to autism etiology, NTRK2, was examined. We found children (n = 146) significantly higher (t 6.82; P < 0.0001) than 50) positively correlated with platelet serotonin distribution (r 0.22; 0.004). Heritability estimated at 30% therefore candidate genes NTRK2 tested association level sample, 469 trio families. Genetic analysis provided no evidence or as major determinants abnormally increased children. A significant uncovered six single nucleotide polymorphisms (SNPs) [0.004 (Z(1df) 2.85) 0.039 2.06)] multiple haplotypes [5 × 10−4(χ(3df) 17.77) 0.042 (χ(9df) 17.450)] gene. These results do not withstand correction comparisons, however, reflect trend toward supports susceptibility disorder. variation gene had impact on risk. By substantiating observed increase larger patient set, suggesting autism, study integrates from supporting hypothesis alterations BDNF/tyrosine kinase B (TrkB) signaling an vulnerability

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