Objective: We aim to estimate the frequency of mutations in the glucocerebrosidase gene (GBA) and LRRK2 G2019S in a yet unstudied Egyptian Parkinson’s disease population from the region of Assiut.

Background: Mutations in GBA are the most common genetic risk factor for Parkinson’s disease (PD). The G2019S mutation in leucine-repeat rich kinase (LRRK2) gene is found in 1% sporadic PD cases and 4% familial PD cases worldwide.

Methods: DNA was extracted from blood samples from 70 PD cases and 294 controls and exons 8-11 of GBA as well as exon 41 of LRRK2 were screened using Sanger sequencing. Mutations frequencies are compared using Fisher’s exact test.

Results: GBA mutations were found in 5.1% (3/59) cases and 0.9% (2/217) controls; 2.9% (2/69) of cases and 0.7% (2/289) of controls carry LRRK2 G2019S. These frequencies are quite different despite not being significant (p>0.05 for both), probably due to small sample size.

Conclusions: This is the first study investigating the role of GBA and LRRK2 G2019S together in an Egyptian population. The most commonly found GBA mutation was L444P in 3 PD patients and 1 control, and has previously been characterised as a severe GBA mutation.

Further analysis of the samples using NGS for screening of the common genes involved in PD risk is underway. Additional samples are being collected for a more robust estimation of the burden of these genes in PD in this population.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/screening-of-gba-and-lrrk2-g2019s-mutations-in-egyptian-parkinsons-disease-patients/