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首页> 外文期刊>Neuron >Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.
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Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.

机译：克隆含有导致PARK8连锁帕金森氏病的突变的基因。

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Parkinson's disease (PD; OMIM #168600) is the second most common neurodegenerative disorder in the Western world and presents as a progressive movement disorder. The hallmark pathological features of PD are loss of dopaminergic neurons from the substantia nigra and neuronal intracellular Lewy body inclusions. Parkinsonism is typically sporadic in nature; however, several rare familial forms are linked to genetic loci, and the identification of causal mutations has provided insight into the disease process. PARK8, identified in 2002 by Funayama and colleagues, appears to be a common cause of familial PD. We describe here the cloning of a novel gene that contains missense mutations segregating with PARK8-linked PD in five families from England and Spain. Because of the tremor observed in PD and because a number of the families are of Basque descent, we have named this protein dardarin, derived from the Basque word dardara, meaning tremor.
机译：帕金森氏病（PD; OMIM＃168600）是西方世界第二常见的神经退行性疾病，表现为进行性运动障碍。 PD的标志性病理特征是黑质和神经元细胞内路易体包裹体中多巴胺能神经元的丢失。帕金森病通常是偶发性的。然而，几种罕见的家族形式与遗传基因座相关，因果突变的鉴定为疾病的发展提供了见识。由Funayama及其同事在2002年鉴定出的PARK8似乎是家族性PD的常见原因。我们在这里描述了一个新基因的克隆，该新基因包含与来自英国和西班牙的五个家庭中与PARK8连锁的PD分离的错义突变。由于在PD中观察到震颤，并且由于许多家族属于巴斯克人血统，因此我们将这种蛋白dardarin命名为来源于巴斯克语dardara的意思是震颤。

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