Glucocerebrosidase genetic variants in Malays with early and late-onset Parkinson’s disease

Pakarulrazy, Nur Fadhlina Mohamad and Syafruddin, Saiful Effendi and Mutalib, Nurul Syakima Ab and Ahmad-Annuar, Azlina and Lim, Shen Yang and Jamal, Rahman and Abdul Murad, Nor Azian and Ibrahim, Norlinah M. (2020) Glucocerebrosidase genetic variants in Malays with early and late-onset Parkinson’s disease. Neurology Asia, 25 (1). pp. 39-46. ISSN 1823-6138

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Background: Mutations in glucocerebrosidase (GBA) have been associated with the risk of developing Parkinson’s disease (PD) in different ethnic populations. The prevalence of GBA mutations among Malay PD patients is unknown. Thus, the aim of this study was to determine the frequency of GBA mutations among Malay PD patients, focusing on early (EOPD) and late-onset (LOPD) patients. Methods: EOPD (n = 50) and LOPD (n = 50) patients along with 50 ethnically and age-matched control were recruited. The GBA exons of these patients were sequenced using the Ion Torrent PGM™ System. Results: Five heterozygous mutations exclusive to EOPD patients were identified; c.-203A>G, p.S146L, p.R159Q, p.L483P and p.L483R+c.-145G>A. In LOPD patients, c.543C>T(p.(F181=)), c.28-10C>A and p.R202Q were identified in which this p.R202Q was also present in a control subject. In addition, c.259C>A(p.(R87=)) and c.-145G>A were identified in two control subjects. In summary, we observed GBA mutations in 8% and 6% of Malay PD cases and control subject, respectively. The prevalence of GBA mutations was higher in EOPD (10%) than LOPD (6%). However, these differences were not statistically significant; [PD vs. controls: OR = 1.36, 95%CI 0.35-5.38, p = 0.752] and [EOPD vs. LOPD: OR = 1.74, 95%CI 0.39-7.71, p = 0.715]. Conclusion: We identified five exclusive heterozygous GBA mutations in EOPD patients which might predict the increase susceptibility of Malays to develop PD at young age. These findings could add knowledge into the existing evidences linking genetic alterations in GBA and PD. © 2020, ASEAN Neurological Association. All rights reserved.

Item Type: Article
Uncontrolled Keywords: Glucocerebrosidase; Malay; Parkinson's disease (PD); EOPD; LOPD
Subjects: R Medicine
Divisions: Faculty of Medicine
Depositing User: Ms. Juhaida Abd Rahim
Date Deposited: 19 Aug 2020 01:34
Last Modified: 19 Aug 2020 01:34

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