Journal article
Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females
AL Shelton, KM Cornish, S Kolbe, M Clough, HR Slater, X Li, CM Kraan, QM Bui, DE Godler, J Fielding
Translational Psychiatry | NATURE PUBLISHING GROUP | Published : 2016
DOI: 10.1038/tp.2016.250
Open access
Abstract
DNA methylation of the Fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary has been associated with executive dysfunction in female carriers of a FMR1 premutation (PM: 55-199 CGG repeats), whereas neuroanatomical changes have been associated with executive dysfunction in PM males. To our knowledge, this study for the first time examined the inter-relationships between executive function, neuroanatomical structure and molecular measures (DNA methylation and FMR1 mRNA levels in blood) in PM and control (o44 CGG repeats) females. In the PM group, FMR1 intron 1 methylation was positively associated with executive function and cortical thickness in middle and superior frontal gyri, and..
View full abstractGrants
Awarded by Murdoch Children's Research Institute
Funding Acknowledgements
We express our thanks to the Fragile X Association of Australia and Fragile X Alliance for their support in recruitment. We also thank Jonathan Whitty from Healthscope Pathology and Erin Turbitt from the Murdoch Childrens Research Institute for their assistance on the molecular procedures. Finally, we are indebted to all the families who participated in this research. This work was funded by Australian Research Council (ARC) Discovery grant (DP110103346) to K Cornish and J Fielding and Australian Postgraduate Award to A Shelton. Salary for the molecular component, in part, was supported by the National Health and Medical Research Council (Project Grants 104299 and 1103389) to D Godler.