Thursday, April 24, 2014
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Blood-based DNA methylation
signature for progressive supranuclear palsy (PSP) and frontotemporal
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
Published online April 24, 2014
Patent and licensing status
Li, Y. et al. PLoS
Genet.; published online March 6, 2014;
Contact: Giovanni Coppola, University of California, Los
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