对来自意大利南部的帕金森病和路易体痴呆患者的LRP10基因进行分析。
Analysis of the LRP10 gene in patients with Parkinson's disease and dementia with Lewy bodies from Southern Italy.
作者信息
Gagliardi Monica, Procopio Radha, Nicoletti Giuseppe, Morelli Maurizio, D'Amelio Marco, Quattrone Aldo, Annesi Grazia
机构信息
Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.
出版信息
Neurol Sci. 2021 Jan;42(1):305-308. doi: 10.1007/s10072-020-04747-1. Epub 2020 Sep 29.
Recently, the LRP10 gene has been associated with Parkinson's disease (PD), Parkinson's disease with dementia (PDD), and dementia with Lewy bodies (DLB). The aim of the present study was to evaluate the presence of mutations of the LRP10 gene in patients with PD or DLB from Southern Italy. Sequencing analysis revealed only 2 missense and 3 synonymous variants in patients and control subjects and a rare variant p.L622F in a PD case. These results suggest that LRP10 mutations are not a frequent cause of PD and DLB in Southern Italy.
最近，低密度脂蛋白受体相关蛋白10（LRP10）基因已被证实与帕金森病（PD）、帕金森病痴呆（PDD）以及路易体痴呆（DLB）相关。本研究的目的是评估意大利南部PD或DLB患者中LRP10基因的突变情况。测序分析显示，患者和对照受试者中仅发现2个错义变体和3个同义变体，以及1例PD病例中的罕见变体p.L622F。这些结果表明，在意大利南部，LRP10突变并非PD和DLB的常见病因。
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