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Blood-based DNA methylation signature for progressive supranuclear palsy (PSP) and frontotemporal dementia (FTD)

Studies in human samples have identified a blood-based methylation signature that could be useful for diagnosing PSP and FTD. In peripheral blood samples from 171 patients who have FTD or PSP and 185 unaffected controls, analysis of genome-wide DNA methylation patterns identified a methylation signature clustered within the 17q21.31 locus of the human genome that was associated with disease status. The 17q21.31 locus contains genes for which mutations are known to associate with risk for neurodegenerative tauopathies, including PSP and FTD. Next steps could include validating the DNA methylation signature in a larger patient cohort.

SciBX 7(16); doi:10.1038/scibx.2014.474
Published online April 24, 2014

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Li, Y. et al. PLoS Genet.; published online March 6, 2014;
doi:10.1371/journal.pgen.1004211
Contact: Giovanni Coppola, University of California, Los Angeles, Calif.
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 gcoppola@ucla.edu