Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis
- PMID: 25771394
- DOI: 10.1016/j.neurobiolaging.2015.02.008
Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis
Abstract
Mutations in the MATR3 gene were just recently identified to cause familial amyotrophic lateral sclerosis, and their role in amyotrophic lateral sclerosis (ALS) in various populations remains unclear. The aim of this study was to determine the frequency and spectrum of mutations in MATR3 in a Taiwanese ALS cohort of Han Chinese origin. Mutational analyses of MATR3 were carried out by direct nucleotide sequencing in a cohort of 207 unrelated patients with ALS. Among them, the genetic diagnoses of 169 patients remained elusive after mutations in SOD1, C9ORF72, TARDBP, FUS, ATXN2, OPTN, VCP, UBQLN2, SQSTM1, PFN1, HNRNPA1, and HNRNPA2B1 had been excluded. We identified 1 heterozygous missense mutation, p.Ala72Thr (c.214G>A), in 1 patient with bulbar-onset and apparently sporadic ALS. The frequency of MATR3 mutations in ALS patients in Taiwan is, therefore, approximately 0.5% (1 of 207). This study reports a novel MATR3 mutation and stresses on the importance to consider MATR3 mutation as a possible etiology of ALS.
Keywords: ALS; Amyotrophic lateral sclerosis; MATR3; Matrin-3.
Copyright © 2015 Elsevier Inc. All rights reserved.
Similar articles
-
Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis.Neurobiol Aging. 2016 Apr;40:191.e11-191.e16. doi: 10.1016/j.neurobiolaging.2015.12.022. Epub 2016 Jan 5. Neurobiol Aging. 2016. PMID: 26804609
-
Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis.Neurobiol Aging. 2018 Feb;62:243.e1-243.e6. doi: 10.1016/j.neurobiolaging.2017.09.031. Epub 2017 Oct 9. Neurobiol Aging. 2018. PMID: 29102476
-
Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis.Neurobiol Aging. 2014 Oct;35(10):2423.e1-6. doi: 10.1016/j.neurobiolaging.2014.05.008. Epub 2014 May 11. Neurobiol Aging. 2014. PMID: 24908169
-
Amyotrophic Lateral Sclerosis Overview.2001 Mar 23 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2001 Mar 23 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301623 Free Books & Documents. Review.
-
MATR3's Role beyond the Nuclear Matrix: From Gene Regulation to Its Implications in Amyotrophic Lateral Sclerosis and Other Diseases.Cells. 2024 Jun 5;13(11):980. doi: 10.3390/cells13110980. Cells. 2024. PMID: 38891112 Free PMC article. Review.
Cited by
-
The role of Matrin-3 in physiology and its dysregulation in disease.Biochem Soc Trans. 2024 Jun 26;52(3):961-972. doi: 10.1042/BST20220585. Biochem Soc Trans. 2024. PMID: 38813817 Free PMC article. Review.
-
Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.Mol Neurodegener. 2023 Aug 7;18(1):52. doi: 10.1186/s13024-023-00639-y. Mol Neurodegener. 2023. PMID: 37545006 Free PMC article. Review.
-
MATR3-antisense LINE1 RNA meshwork scaffolds higher-order chromatin organization.EMBO Rep. 2023 Aug 3;24(8):e57550. doi: 10.15252/embr.202357550. Epub 2023 Jun 29. EMBO Rep. 2023. PMID: 37381832 Free PMC article.
-
Neuronal activity regulates Matrin 3 abundance and function in a calcium-dependent manner through calpain-mediated cleavage and calmodulin binding.Proc Natl Acad Sci U S A. 2023 Apr 11;120(15):e2206217120. doi: 10.1073/pnas.2206217120. Epub 2023 Apr 3. Proc Natl Acad Sci U S A. 2023. PMID: 37011198 Free PMC article.
-
MATR3 P154S knock-in mice do not exhibit motor, muscle or neuropathologic features of ALS.Biochem Biophys Res Commun. 2023 Feb 19;645:164-172. doi: 10.1016/j.bbrc.2023.01.032. Epub 2023 Jan 13. Biochem Biophys Res Commun. 2023. PMID: 36689813 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Molecular Biology Databases
Miscellaneous
