Absence of the LRRK2 mutation in Emirati Parkinson's disease patients in contrast to other Arab populations

与其他阿拉伯人群相比,阿联酋帕金森病患者中未发现LRRK2基因突变。

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Abstract

BACKGROUND: The role of genetic factors in the pathogenesis of Parkinson's disease (PD) is characterized by heterogeneity in specific genetic variations and their prevalence across different populations and geographic locations. OBJECTIVE: To investigate the frequency of the Leucine-rich repeat kinase 2 (LRRK2) mutation, a well-known genetic risk factor for PD, within Emirati patients. METHODS: Emirati PD patients were recruited from the United Arab Emirates between September 2022 and May 2024. Blood samples were systematically screened for mutations across all 52 exons of the LRRK2 gene. RESULTS: The LRRK2 mutation was not detected in any of the 50 Emirati PD patients (mean age 64.2 ± 14.1 years, of whom 56% are male) examined. CONCLUSION: The absence of the LRRK2 and specifically the G2019S mutation in Emirati PD patients corroborates findings from Saudi Arabia and indicates a distinct genetic pattern compared to other Arab regions like Egypt and Maghreb (North African) countries, where the G2019S mutation prevalence ranges from 10 to 40%. This underscores the need for further research to unveil alternative genetic determinants specific to the Emirati PD population.

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