Journal
BRAIN RESEARCH
Volume 1598, Issue -, Pages 88-96Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.brainres.2014.11.058
Keywords
FXTAS; Iron; Fragile X; Neurodegeneration; FMR1; Autism; Premutation; CGG repeat; Choroid plexus
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Funding
- National Institutes of Health [MH094681, HD040661, HD036071, UL1 TR000002]
- Shriners Hospitals
- UC Davis National Center for Advancing Translational Sciences
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with premutation alleles of the FMR1 gene that is characterized by progressive action tremor, gait ataxia, and cognitive decline. Recent studies of mitochondrial dysfunction in FXTAS have suggested that iron dysregulation may be one component of disease pathogenesis. We tested the hypothesis that iron dysregulation is part of the pathogenic process in FXTAS. We analyzed postmortem choroid plexus from FXTAS and control subjects, and found that in FXTAS iron accumulated in the stroma, transferrin levels were decreased in the epithelial cells, and transferrin receptor 1 distribution was shifted from the basolateral membrane (control) to a predominantly intracellular location (FXTAS). In addition, ferroportin and ceruloplasmin were markedly decreased within the epithelial cells. These alterations have implications not only for understanding the pathophysiology of FXTAS, but also for the development of new clinical treatments that may incorporate selective iron chelation. (C) 2014 Elsevier B.V. All rights reserved.
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