The p.Gly2019Ser is the commonest pathogenic mutation in the LRRK2 gene among Egyptians with familial and sporadic Parkinson's disease

Salama M, William M, Hamed S, Shalash A, Khedr E, Yousef M, El-Jaafary S, Fawi G, Helmy A, Hamid E, Essam M, Lee H, Jama A, Korayem M, Mahmoud D, Elfarrash S, Elsaid Y, Gabr A, Shebl N, Abdelwahhab N, Belal T, Elsayed N, El-Gamal M, Elgamal S, Ragab S, Mekky J, Mohamed L, Shamma S, Ragab G, Hussein M, Hegazy M, Houlden H, Rizig M.

· 2024-07-01

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Abstract The impact of LRRK2 variants on the risk of Parkinson's disease (PD) in Egyptians remains unknown. We examined 1,210 Egyptians (611 PD patients and 599 controls) for 12 LRRK2 mutations. The p.Gly2019Ser was the only variant detected across Egypt, 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. Early-onset PD prevalence was 33% in carriers and 25% in non-carriers. Familial cases were 16% in carriers and 11% in non-carriers. This study affirms that like other North Africans and Mediterranean populations, Egyptians with PD have a notably high prevalence of the p.Gly2019Ser. LRRK2 inhibitors could be promising therapeutic options for further exploration in this population.

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