Edgar, Suzanna and Ellis, Melina and Abdul-Aziz, Nur Adilah and Goh, Khean-Jin and Shahrizaila, Nortina and Kennerson, Marina L. and Ahmad-Annuar, Azlina (2021) Mutation analysis of SOD1, C9orf72, TARDBP and FUS genes in ethnically-diverse Malaysian patients with amyotrophic lateral sclerosis (ALS). Neurobiology of Aging, 108. pp. 200-206. ISSN 0197-4580, DOI https://doi.org/10.1016/j.neurobiolaging.2021.07.008.
Full text not available from this repository.Abstract
Recent studies have identified SOD1, FUS, TARDBP and C9orf72 as major ALS-related genes in both European and Asian populations. However, significant differences exist in the mutation frequencies of these genes between various ancestral backgrounds. This study aims to identify the frequency of mutations in the common causative ALS genes in a multi-ethnic Malaysian cohort. We screened 101 Malaysian ALS patients including 3 familial and 98 sporadic cases for mutations in the coding regions of SOD1, FUS, and TARDBP by Sanger sequencing. The C9orf72 hexanucleotide repeat expansion was screened using the repeat-primed polymerase chain reaction assay. Mutations were found in 5.9% (6 of 101) of patients including 3.0% (3 of 101) of patients with the previously reported SOD1 missense mutations (p.V48A and p.N87S) and 3.0% (3 of 101) of patients with the C9orf72 repeat expansion. No mutations were found in the FUS and TARDBP genes. This study is the first to report the mutation frequency in an ethnically diverse Malaysian ALS population and warrants further investigation to reveal novel genes and disease pathways. (c) 2021 Elsevier Inc. All rights reserved.
| Item Type: | Article |
|---|---|
| Funders: | Malaysian Ministry of Edu-cation Fundamental Research Grant Scheme [FRGS/1/2018/SKK08/UM/01/1], ALS Association [IF008-2019], Sydney Southeast Asia Centre [IF012-2019] |
| Uncontrolled Keywords: | Amyotrophic lateral sclerosis; Malaysia; SOD1; TARDBP; FUS; C9orf72 |
| Subjects: | H Social Sciences > HQ The family. Marriage. Woman R Medicine > RC Internal medicine |
| Divisions: | Faculty of Medicine > Medicine Department |
| Depositing User: | Ms Zaharah Ramly |
| Date Deposited: | 22 Aug 2022 06:20 |
| Last Modified: | 22 Aug 2022 06:20 |
| URI: | http://eprints.um.edu.my/id/eprint/28666 |
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