Journal article

beta-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles

CM Kraan, KM Cornish, QM Bui, X Li, HR Slater, DE Godler



Fragile X tremor ataxia syndrome (FXTAS) is a late-onset disorder manifesting in a proportion of FMR1 premutation individuals (PM: 55-199 CGG triplet expansions). FXTAS is associated with elevated levels of FMR1 mRNA which are toxic. In this study, relationships between neurocognitive and intra-step gait variability measures with mRNA levels, measured in blood samples, were examined in 35 PM and 35 matched control females. The real-time PCR assays measured FMR1 mRNA, and previously used internal control genes: β-Glucuronidase (GUS), Succinate Dehydrogenase 1 (SDHA) and Eukaryotic Translation Initiation Factor 4A (EI4A2). Although there was significant correlation of gait variability with FMR..

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Awarded by Australian Research Council (ARC)

Awarded by NHMRC

Funding Acknowledgements

This study was supported by an Australian Research Council (ARC) Discovery grant (DP110103346) to K.M.C, and a National Fragile X Foundation Rosen Summer Student Fellowship award, Australian Postgraduate Award Scholarship and Monash University Faculty of Medicine, Nursing and Health Sciences Bridging Postdoctoral Fellowship to C.M.K; 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.R.S and D.E.G); and NHMRC project grant (no. 1103389 to H.R.S and D.E.G); Murdoch Children's Research Institute, Royal Children's Hospital Foundation (D.E.G.). The authors thank the Fragile X Association of Australia and Fragile X Alliance for supporting recruitment. They also sincerely thank all the women who participated in this research.