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Neurobiol Aging. 2013 Sep;34(9):2235.e11-3. doi: 10.1016/j.neurobiolaging.2013.04.004. Epub 2013 Apr 28.

Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS.

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Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.


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.

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