@article{article_1583422, title={GBA1 variants and Parkinson’s Disease: A dual approach combining clinical data and literature review}, journal={Ege Tıp Dergisi}, volume={64}, pages={231–242}, year={2025}, DOI={10.19161/etd.1583422}, url={https://izlik.org/JA85NP68PX}, author={Canbek, Sezin and Mert, Goncagül and Gülseven, Muhammed Fatih and Şenol, Mehmet Güney}, keywords={Parkinson hastalığı, GBA geni, glukoserebrosidaz, klinik ekzom analizi, motor semptomlar}, abstract={Aim: The GBA1 (ENSG00000177628) gene, a key susceptibility gene in Parkinson’s disease (PD) and closely linked to Gaucher disease, has garnered significant research attention over the past two decades. Mutations in GBA1 are associated with an elevated risk of developing PD. This study aims to elucidate genetic mutations related to PD in a cohort of patients undergoing clinical exome analysis. We aimed to investigate the clinical and genetic profiles of patients with Parkinson’s disease, focusing on GBA1 gene mutations and additional neurodegenerative-related genetic alterations.
Materials and Methods: Fourteen patients with a preliminary diagnosis of Parkinson’s disease underwent clinical exome analysis. The research included genetic testing to identify variants of uncertain significance, likely pathogenic mutations, and pathogenic mutations in the GBA1 gene. Further genetic alterations were evaluated in patients with positive GBA1 mutation results.
Results: 14 out of 177 diagnosed individuals had GBA1 mutations. The group had 8 men and 6 women with a mean onset age of 53.7 years. Tremor, stiffness, bradykinesia, hypomimia, and postural instability predominated. Dopamine agonists were often administered for symptoms. Disorders like depression, anxiety, hypercholesterolemia, and diabetes were frequent. GBA1 gene study found many missense variants, with the p.Asn409Ser (N370S) mutation being the most common. Four individuals also had mutations in EIF4G1, APP, and SLC20A2, demonstrating a complex genetic landscape affecting PD.
Conclusion: Our research highlights PD’s genetic diversity, particularly GBA1 mutations’ role in disease onset and progression. Additional genetic variants may worsen PD symptoms. Further research is needed on these mutations’ pathogenicity and consequences on patient care.}, number={2}, organization={None}