Objective: To investigate the distribution of genetic variants among Mongolian patients with Parkinson’s disease  within the framework of the international GP2 project MONPAR study .

Background: Parkinson’s disease (PD) is a neurodegenerative disorder in which genetic factors contribute to approximately 20–30% of cases. Genetic risk factors influence disease susceptibility, age at onset, and progression. To date, genetic studies of Parkinson’s disease have not been reported in Mongolia.

Method: A total of 106  Parkinson’s disease were included in the study. Genetic analysis was performed using a combined approach of NeuroBooster Array (NBA) and Whole Genome Sequencing (WGS) to determine nucleotide sequence variations.

Results: A total of 106  PD patients have included: a mean age of 57.3 years, a mean age at disease onset of 48.5 years, and a mean disease duration of 8.7 years. Missense variants (SNVs) in PD risk genes were detected in 13.2% (14 individuals) of PD patients. The mean age at onset in this group with genetic variants was 40.2 years, which was 10 years younger than in the group without variants (50.2 years; p < 0.05). Early motor symptom onset showed significant associations: onset before age 50: OR = 6.53 (95% CI 1.09–39.00; p < 0.05) and onset before age 40: OR = 5.58 (95% CI 1.42–22.00; p < 0.05).  Genetic variants were identified in the following genes: GBA – 5 cases, PRKN – 3 cases and LRRK2 – 5 cases. PD patients with GBA variants had the earliest disease onset, with a mean age of 32.6 years. A family history of PD was reported in 29.9% of all participants and was more frequent among individuals with genetic variants (45.5%). Combined genetic variants were observed in several cases: PRKN p.Arg42Pro + PRKN p.Gly284Arg in 3 cases and LRRK2 p.Gly2385Arg + GBA p.Asp448His (D409H) in 1 case. An increasing number of detected genetic variants was associated with an earlier onset of PD, with a mean onset  41.6 years in patients carrying one variant and 36.3 years in those carrying two variants.

Conclusion: Among the 106 Mongolian PD patients, PD risk gene variants were identified in 13.2%. The presence and increasing number of genetic variants are associated with a higher risk of earlier disease onset.

References: international GP2 project MONPAR study

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MDS Abstracts - https://www.mdsabstracts.org/abstract/genetic-analysis-of-mongolian-patients-with-parkinsons-disease/