Neuroepidemiology Department, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Cancer Genetics, Therapeutics & Ultrastructural Pathology Department, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Int J Mol Sci. 2022 Dec 6;23(23):15369. doi: 10.3390/ijms232315369.
Parkinson's Disease (PD) is a multifactorial neurodegenerative disease characterized by motor and non-motor symptoms. The etiology of PD remains unclear. However, several studies have demonstrated the interplay of genetic, epigenetic, and environmental factors in PD. Early-onset PD (EOPD) is a subgroup of PD diagnosed between the ages of 21 and 50. Population genetic studies have demonstrated great genetic variability amongst EOPD patients. Hence, this study aimed to obtain a genetic landscape of EOPD in the Cypriot population. Greek-Cypriot EOPD patients ( = 48) were screened for variants in the six most common EOPD-associated genes (, , , , , and ). This included DNA sequencing and Multiplex ligation-dependent probe amplification (MLPA). One previously described frameshift variant in (NM_032409.3:c.889del) was detected in five patients (10.4%)-the largest number to be detected to date. Copy number variations in the gene were identified in one homozygous and 3 compound heterozygous patients (8.3%). To date, the pathogenic variants identified in this study have explained the PD phenotype for 18.8% of the EOPD cases. The results of this study may contribute to the genetic screening of EOPD in Cyprus.
帕金森病（PD）是一种多因素神经退行性疾病，其特征为运动和非运动症状。PD 的病因仍不清楚。然而，几项研究表明遗传、表观遗传和环境因素在 PD 中相互作用。早发性帕金森病（EOPD）是一种在 21 至 50 岁之间被诊断出的 PD 亚组。人群遗传学研究表明，EOPD 患者之间存在很大的遗传变异性。因此，本研究旨在获得塞浦路斯人群中 EOPD 的遗传图谱。希腊裔塞浦路斯人 EOPD 患者（n=48）被筛选六种最常见的 EOPD 相关基因（,,,,, 和 ）中的变异。这包括 DNA 测序和多重连接依赖性探针扩增（MLPA）。在五个患者（10.4%）中检测到先前在 （NM_032409.3:c.889del）中描述的移码变异-迄今为止检测到的最多数量。在一个纯合子和 3 个复合杂合子患者（8.3%）中发现 基因的拷贝数变异。迄今为止，本研究中鉴定的致病性变异解释了 18.8%的 EOPD 病例的 PD 表型。本研究的结果可能有助于塞浦路斯 EOPD 的遗传筛查。
