Journal article

Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women

Kim M Cornish, Claudine M Kraan, Minh Bui Quang, Mark A Bellgrove, Sylvia A Metcalfe, Julian N Trollor, Darren R Hocking, Howard R Slater, Yoshimi Inaba, Xin Li, Alison D Archibald, Erin Turbitt, Jonathan Cohen, David E Godler



OBJECTIVE: To examine the epigenetic basis of psychiatric symptoms and dysexecutive impairments in FMR1 premutation (PM: 55 to 199 CGG repeats) women. METHODS: A total of 35 FMR1 PM women aged between 22 and 55 years and 35 age- and IQ-matched women controls (CGG <45) participated in this study. All participants completed a range of executive function tests and self-reported symptoms of psychiatric disorders. The molecular measures included DNA methylation of the FMR1 CpG island in blood, presented as FMR1 activation ratio (AR), and 9 CpG sites located at the FMR1 exon1/intron 1 boundary, CGG size, and FMR1 mRNA levels. RESULTS: We show that FMR1 intron 1 methylation levels could be used to ..

View full abstract


Awarded by Australian Research Council (ARC)

Awarded by NHMRC

Funding Acknowledgements

Supported by an Australian Research Council (ARC) Discovery grant (DP110103346) to K. Cornish, S. Metcalfe, and J. Trollor and a Monash University Research Fellowship to D. Hocking; by a National Fragile X Foundation Rosen Summer Student Fellowship award and the Australian Postgraduate Award Scholarship Scheme to C. Kraan; and by the Victorian Government's Operational Infrastructure Support Program, with the salaries for the molecular component supported by an NHMRC project grant (no. 104299 to H. Slater and D. Godler) and Murdoch Children's Research Institute, Royal Children's Hospital Foundation (D.E.G.). S. Metcalfe and A. Archibald were supported by the Murdoch Children's Research Institute and the Victorian Government's Operational Infrastructure Support Program.