Department of Neurology, University of Florida, Gainesville, FL 32610, USA.
Mongi Ben Hamida National Institute of Neurology, Av. de la Rabta, Tunis 1007, Tunisia.
Genes (Basel). 2024 Jul 3;15(7):878. doi: 10.3390/genes15070878.
Leucine-rich repeat kinase 2 () c.6055G>A (p.G2019S) is a frequent cause of Parkinson's disease (PD), accounting for >30% of Tunisian Arab-Berber patients. is widely expressed in the immune system and its kinase activity confers a survival advantage against infection in animal models. Here, we assess haplotype variability and of the c.6055G>A mutation, define the age of the pathogenic allele, explore its relationship to the age of disease onset (AOO), and provide evidence for its positive selection.
富含亮氨酸重复激酶 2 () c.6055G>A (p.G2019S) 是帕金森病 (PD) 的常见病因,占突尼斯阿拉伯-柏柏尔患者的>30%。 在免疫系统中广泛表达,其激酶活性赋予动物模型对感染的生存优势。在这里,我们评估了 c.6055G>A 突变的单倍型变异性和,定义了致病等位基因的年龄,探讨了它与疾病发病年龄 (AOO) 的关系,并为其正选择提供了证据。