LRRK2基因的p.L1795F变异在欧洲人群中会引发帕金森病。
The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.
作者信息
Lange Lara M, Levine Kristin, Fox Susan H, Marras Connie, Ahmed Nazish, Kuznetsov Nicole, Vitale Dan, Iwaki Hirotaka, Lohmann Katja, Marsili Luca, Espay Alberto J, Bauer Peter, Beetz Christian, Martin Jessica, Factor Stewart A, Higginbotham Lenora A, Chen Honglei, Leonard Hampton, Nalls Mike A, Mencacci Niccolo E, Morris Huw R, Singleton Andrew B, Klein Christine, Blauwendraat Cornelis, Fang Zih-Hua
机构信息
Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Department of Neurology, University Hospital Schleswig-Holstein, Luebeck, Germany.
出版信息
NPJ Parkinsons Dis. 2025 Mar 25;11(1):58. doi: 10.1038/s41531-025-00896-2.
LRRK2-PD represents the most common form of autosomal dominant Parkinson's disease. We identified the LRRK2 p.L1795F variant in three families and six additional unrelated cases using genetic data from over 50,000 individuals. Carriers with available genotyping data shared a common haplotype. The clinical presentation resembles other LRRK2-PD forms. Combined with published functional evidence showing strongly enhanced LRRK2 kinase activity, we provide evidence that LRRK2 p.L1795F is pathogenic.
LRRK2基因相关帕金森病是常染色体显性帕金森病最常见的形式。我们通过对50000多名个体的基因数据进行分析，在三个家族和另外六个无亲缘关系的病例中鉴定出LRRK2基因p.L1795F变异。具有可用基因分型数据的携带者共享一个常见单倍型。其临床表现与其他LRRK2基因相关帕金森病形式相似。结合已发表的功能证据表明LRRK2激酶活性显著增强，我们提供了LRRK2基因p.L1795F具有致病性的证据。
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