已有人证实在某些家族性帕金森病人中有α-synuclein基因的突变,同时也证明了在这些患者的脑中有α-synuclein蛋白的积累。这些发现说明α-synuclein蛋白的异常积累与帕金森病的发病有关。这里我们在一个有帕金森病人的德国家庭中,发现了泛有素羟基末端水解酶L1(UCH-L1)基因的错义突变。我们证实这一Ile93Met突变,可使该疏基蛋白酶的催化活力下降,从而造成蛋白分解和蛋白积累的错误。 It has been confirmed in some familial Parkinson’s disease mutations in the α-synuclein gene, but also proved that in these patients have α-synuclein protein accumulation in the brain. These findings suggest that the abnormal accumulation of α-synuclein protein is associated with the development of Parkinson’s disease. Here we find a missense mutation of the ubiquitous hydroxy-terminal hydrolase L1 (UCH-L1) gene in a German family with Parkinson’s disease. We demonstrate that this Ile93Met mutation causes a reduction in the catalytic activity of the spreinase resulting in errors in proteolysis and protein accumulation.