Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis.

Autor: Chan Moi Fat S; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., McCann EP; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Williams KL; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Henden L; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Twine NA; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia; Australian eHealth Centre, Commonwealth Scientific and Industrial Research Organization, Health & Biosecurity Flagship, Sydney, New South Wales, Australia., Bauer DC; Australian eHealth Centre, Commonwealth Scientific and Industrial Research Organization, Health & Biosecurity Flagship, Sydney, New South Wales, Australia; Department of Biomedical Sciences, Faculty of Medicine Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia; Applied BioSciences, Faculty of Science and Engineering, Macquarie University, Sydney, New South Wales, Australia., Pamphlett R; Discipline of Pathology, University of Sydney, Sydney, New South Wales, Australia; Department of Neuropathology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia; Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia., Kiernan MC; Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia; Institute of Clinical Neurosciences, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia., Rowe DB; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia; Department of Clinical Medicine, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Nicholson GA; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia; Molecular Medicine Laboratory, Concord Hospital, Sydney, New South Wales, Australia., Fifita JA; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia. Electronic address: jennifer.fifita@mq.edu.au., Blair IP; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia.
Jazyk: angličtina
Zdroj: Neurobiology of aging [Neurobiol Aging] 2021 May; Vol. 101, pp. 297.e9-297.e11. Date of Electronic Publication: 2021 Jan 16.
DOI: 10.1016/j.neurobiolaging.2021.01.005
Abstrakt: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease caused by the progressive degeneration of motor neurons. Recently, genetic variants in GLT8D1 and ARPP21 were associated with ALS in a cohort of European descent. A synergistic relationship was proposed between ALS associated variants in GLT8D1 and ARPP21. We aimed to determine the prevalence of genetic variation in GLT8D1 and ARPP21 in an Australian cohort of familial (n = 81) and sporadic ALS (n = 618) cases using whole-exome and whole-genome sequencing data. No novel mutations were identified in either gene, nor was there significant enrichment of protein-altering sequence variation among ALS cases. GLT8D1 and ARPP21 mutations are not a common cause of ALS in Australian familial and sporadic cohorts.
(Copyright © 2021 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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