脑源性神经营养因子基因变异与家族性帕金森病的发病年龄相关：基因帕金森病研究。
BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study.
作者信息
Karamohamed S, Latourelle J C, Racette B A, Perlmutter J S, Wooten G F, Lew M, Klein C, Shill H, Golbe L I, Mark M H, Guttman M, Nicholson G, Wilk J B, Saint-Hilaire M, DeStefano A L, Prakash R, Tobin S, Williamson J, Suchowersky O, Labell N, Growdon B N J, Singer C, Watts R, Goldwurm S, Pezzoli G, Baker K B, Giroux M L, Pramstaller P P, Burn D J, Chinnery P, Sherman S, Vieregge P, Litvan I, Gusella J F, Myers R H, Parsian A
机构信息
Department of Neurology, Boston University School of Medicine, MA, USA.
出版信息
Neurology. 2005 Dec 13;65(11):1823-5. doi: 10.1212/01.wnl.0000187075.81589.fd.
Brain-derived neurotrophic factor (BDNF) stimulates neuronal growth and protects nigral dopamine neurons in animal models of Parkinson disease (PD). Therefore, BDNF is a candidate gene for PD. The authors investigated five single-nucleotide polymorphisms in 597 cases of familial PD. Homozygosity for the rare allele of the functional BDNF G196A (Val66Met) variant was associated with a 5.3-year older onset age (p = 0.0001). These findings suggest that BDNF may influence PD onset age.
脑源性神经营养因子（BDNF）可刺激神经元生长，并在帕金森病（PD）动物模型中保护黑质多巴胺能神经元。因此，BDNF是PD的一个候选基因。作者研究了597例家族性PD患者的5个单核苷酸多态性。功能性BDNF G196A（Val66Met）变体的罕见等位基因纯合与发病年龄大5.3岁相关（p = 0.0001）。这些发现表明BDNF可能影响PD的发病年龄。
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