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Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS |
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| Authors: | Thomas A. Ravenscroft Matt C. Baker Nicola J. Rutherford Manuela Neumann Ian R. Mackenzie Keith A. Josephs Bradley F. Boeve Ronald Petersen Glenda M. Halliday Jillian Kril John C. van Swieten William W. Seeley Dennis W. Dickson Rosa Rademakers |
| Affiliation: | 1. Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA;2. Department of Neuropathology, University of Tübingen, Tübingen, Germany;3. German Center for Neurodegenerative Diseases, Tübingen, Germany;4. Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada;5. Department of Neurology, Mayo Clinic, Rochester, MN, USA;6. Neuroscience Research Australia, Sydney, NSW, and UNSW Medicine, University of New South Wales, Sydney, NSW, Australia;g Disciplines of Medicine and Pathology, Sydney Medical School, University of Sydney, NSW, Australia;h Department of Neurology, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands, and Vumc Alzheimercenter, Amsterdam, the Netherlands;i Department of Neurology, University of California, San Francisco, CA, USA |
| Abstract: | The nuclear protein fused in sarcoma (FUS) is found in cytoplasmic inclusions in a subset of patients with the neurodegenerative disorder frontotemporal lobar degeneration (FTLD-FUS). FUS contains a methylated arginine–glycine–glycine domain that is required for transport into the nucleus. Recent findings have shown that this domain is hypomethylated in patients with FTLD-FUS. To determine whether the cause of hypomethylation is the result of mutations in protein N-arginine methyltransferases (PRMTs), we selected 3 candidate genes (PRMT1, PRMT3, and PRMT8) and performed complete sequencing analysis and real-time polymerase chain reaction mRNA expression analysis in 20 FTLD-FUS cases. No mutations or statistically significant changes in expression were observed in our patient samples, suggesting that defects in PRMTs are not the cause of FTLD-FUS. |
| Keywords: | Frontotemporal lobar degeneration FUS FET proteins PRMT1 PRMT3 PRMT8 Protein N-arginine methyltransferase |
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