Hague Stephen, Rogaeva Ekaterina, Hernandez Dena, Gulick Cindy, Singleton Amanda, Hanson Melissa, Johnson Janel, Weiser Roberto, Gallardo Marisol, Ravina Bernard, Gwinn-Hardy Katrina, Crawley Anthony, St George-Hyslop Peter H, Lang Anthony E, Heutink Peter, Bonifati Vincenzo, Hardy John, Singleton Andrew
Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Ann Neurol. 2003 Aug;54(2):271-4. doi: 10.1002/ana.10663.
Mutations in DJ-1 have been linked to an autosomal recessive form of early-onset parkinsonism. To identify mutations causing Parkinson's disease (PD), we sequenced exons 1 through 7 of DJ-1 in 107 early-onset (age at diagnosis up to 50 years) PD subjects. One subject had a frameshift mutation in the first coding exon and an exon 7 splice mutation both predicted to result in a loss of functional protein. This subject was diagnosed with probable PD at age 24 years with asymmetric onset and an excellent response to levodopa therapy. Our observations suggest that sequence alterations in DJ-1 are a rare cause of early-onset PD.
DJ-1基因的突变与一种常染色体隐性遗传的早发性帕金森病有关。为了鉴定导致帕金森病（PD）的突变，我们对107例早发性（诊断时年龄不超过50岁）PD患者的DJ-1基因第1至7外显子进行了测序。一名患者在第一个编码外显子中有一个移码突变，并且第7外显子有一个剪接突变，两者均预测会导致功能性蛋白缺失。该患者在24岁时被诊断为可能的PD，起病不对称，对左旋多巴治疗反应良好。我们的观察结果表明，DJ-1基因的序列改变是早发性PD的一个罕见病因。
