The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson’s disease

Funding Number

177813

Funding Sponsor

American University in Cairo

Author's Department

Institute of Global Health & Human Ecology

Fifth Author's Department

Institute of Global Health & Human Ecology

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https://doi.org/10.1038/s41531-024-00826-8

All Authors

Martina B. William, Sharifa Hamed, Ali Shalash, Eman M. Khedr, Mohamed H. Yousef, Shaimaa El-Jaafary, Gharib Fawi, Asmaa Helmy, Eman Hamid, Mohamed Essam, Hamin Lee, Alina Jama, Doaa M. Mahmoud, Sara Elfarrash, Yasmin Elsaid, Asmaa S. Gabr, Nourhan Shebl, Nesreen Abdelwahhab

Document Type

Research Article

Publication Title

npj Parkinson's Disease

Publication Date

12-1-2024

doi

10.1038/s41531-024-00826-8

Abstract

The impact of LRRK2 variants on the risk of Parkinson’s disease in Egyptians remains unknown. We examined 1210 Egyptians (611 PD patients and 599 controls) from 16 governorates across Egypt for 12 LRRK2 pathogenic variants. The p.Gly2019Ser was the only variant detected, with a prevalence of 4.1% in sporadic cases, 6.5% in familial cases, and 0.68% in controls. Among p.Gly2019Ser carriers, all were heterozygous bar one homozygous patient, and all shared the common haplotype 1. Demographics and UPDRS scores did not differ between carriers and non-carriers, with most patients being males and developed PD in their fifties. Young and Early-onset PD prevalence was 37.5% in carriers and 33% in non-carriers. Familial cases were 16.6% in carriers and 11.5% in non-carriers. This study affirms that like other Mediterranean populations, Egyptians with PD have a higher prevalence of the p.Gly2019Ser variant compared to the global average. LRRK2 inhibitors could be promising therapeutic options for further exploration in this population.

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Article. Record derived from SCOPUS.

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