Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS
Copyright policy )Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS
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.
- Erasmus University Medical Center Netherlands
- Neuroscience Research Australia Australia
- University of California, San Francisco United States
- Mayo Clinic United States
- University of Sydney Australia
Aging, Protein-Arginine N-Methyltransferases, PRMT1, Messenger, Neurodegenerative, Sequence Analysis, Protein, 2.1 Biological and endogenous factors, Protein N-arginine methyltransferase, Alzheimer's Disease Related Dementias (ADRD), 3' Untranslated Regions, Frontotemporal Dementia (FTD), genetics [Membrane Proteins], frontotemporal lobar degeneration, Neurological, genetics [3' Untranslated Regions], PRMT3, genetics [Frontotemporal Lobar Degeneration], PRMT1 protein, human, Sequence Analysis, PRMT8, Biotechnology, EMC COEUR-09, 570, Clinical Sciences, genetics [5' Untranslated Regions], 610, Frontotemporal lobar degeneration, Real-Time Polymerase Chain Reaction, Rare Diseases, FET proteins, Acquired Cognitive Impairment, Genetics, PRMT8 protein, human, Humans, genetics [Protein-Arginine N-Methyltransferases], PRMT3 protein, human, RNA, Messenger, mutations in protein N-arginine methyltransferases (PRMTs), FUS, Neurology & Neurosurgery, genetics [DNA], Biomedical and Clinical Sciences, Protein, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Membrane Proteins, DNA, Brain Disorders, Repressor Proteins, genetics [Repressor Proteins], Mutation, RNA, Biological psychology, Dementia, Frontotemporal Lobar Degeneration, 5' Untranslated Regions, anzsrc-for: 110903 Central Nervous System, ddc: ddc:610
Aging, Protein-Arginine N-Methyltransferases, PRMT1, Messenger, Neurodegenerative, Sequence Analysis, Protein, 2.1 Biological and endogenous factors, Protein N-arginine methyltransferase, Alzheimer's Disease Related Dementias (ADRD), 3' Untranslated Regions, Frontotemporal Dementia (FTD), genetics [Membrane Proteins], frontotemporal lobar degeneration, Neurological, genetics [3' Untranslated Regions], PRMT3, genetics [Frontotemporal Lobar Degeneration], PRMT1 protein, human, Sequence Analysis, PRMT8, Biotechnology, EMC COEUR-09, 570, Clinical Sciences, genetics [5' Untranslated Regions], 610, Frontotemporal lobar degeneration, Real-Time Polymerase Chain Reaction, Rare Diseases, FET proteins, Acquired Cognitive Impairment, Genetics, PRMT8 protein, human, Humans, genetics [Protein-Arginine N-Methyltransferases], PRMT3 protein, human, RNA, Messenger, mutations in protein N-arginine methyltransferases (PRMTs), FUS, Neurology & Neurosurgery, genetics [DNA], Biomedical and Clinical Sciences, Protein, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Membrane Proteins, DNA, Brain Disorders, Repressor Proteins, genetics [Repressor Proteins], Mutation, RNA, Biological psychology, Dementia, Frontotemporal Lobar Degeneration, 5' Untranslated Regions, anzsrc-for: 110903 Central Nervous System, ddc: ddc:610
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