Journal article
Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism
DZ Loesch, DE Godler, A Evans, QM Bui, F Gehling, KE Kotschet, N Trost, E Storey, P Stimpson, G Kinsella, D Francis, DR Thorburn, A Venn, HR Slater, M Horne
Genetics in Medicine | NATURE PUBLISHING GROUP | Published : 2011
Abstract
PURPOSE: Our previous results showed that both gray zone and lower end premutation range (40-85 repeats) fragile X mental retardation 1 (FMR1) alleles were more common among males with parkinsonism than in the general population. This study aimed to determine whether these alleles have a significant role in the manifestations and pathogenesis of parkinsonian disorders. METHODS: Detailed clinical assessment and genetic testing were performed in 14 male carriers of premutation and gray zone FMR1 alleles and in 24 noncarriers identified in a sample of males with parkinsonism. RESULTS: The premutation + gray zone carriers presented with more severe symptoms than disease controls matched for age,..
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Awarded by Eunice Kennedy Shriver National Institute of Child Health and Human Development
Funding Acknowledgements
This study was supported by the National Institutes of Child Health and Human Development Grant HD 36071, Australian National Health and Medical Research Council (NHMRC) Project Grant No. 330400 (to Dr. D. Z. Loesch), and the Principal Research Fellowship (Grant No. 436906) from the NHMRC (to Dr. D. R. Thorburn). The authors thank Dr. D. Amor from the Victorian Clinical Genetic Services for providing blood sample from one premutation carrier included in Figure 2, and Louise Hills and Con Ngo from the VCGS Cytogenetics Laboratory, Murdoch Childrens' Research Institute, for acquisition of patients' CGG expansion size data. They also thank the clinical patients and their families who participated in this study.