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Research Article

Altered Gene Expression and DNA Damage in Peripheral Blood Cells from Friedreich's Ataxia Patients: Cellular Model of Pathology

  • Astrid C. Haugen,

    Affiliation: Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, United States of America

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  • Nicholas A. Di Prospero,

    Affiliation: Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland, United States of America

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  • Joel S. Parker,

    Affiliation: Expression Analysis, Durham, North Carolina, United States of America

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  • Rick D. Fannin,

    Affiliation: Laboratory of Toxicogenomics, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, United States of America

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  • Jeff Chou,

    Affiliation: Laboratory of Toxicogenomics, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, United States of America

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  • Joel N. Meyer,

    Affiliation: Nicholas School of the Environment, Duke University, Durham, North Carolina, United States of America

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  • Christopher Halweg,

    Affiliation: Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, United States of America

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  • Jennifer B. Collins,

    Affiliation: Laboratory of Toxicogenomics, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, United States of America

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  • Alexandra Durr,

    Affiliations: Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Université Pierre et Marie Curie, Paris, France, Département de Génétique et Embryologie, Hôpital Pitié-Salpêtrière, Paris, France

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  • Kenneth Fischbeck,

    Affiliation: Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland, United States of America

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  • Bennett Van Houten mail

    vanhoutenb@upmc.edu

    Affiliations: Department of Pharmacology and Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America, University of Pittsburgh Cancer Institute, Hillman Cancer Center, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America

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  • Published: January 15, 2010
  • DOI: 10.1371/journal.pgen.1000812

About the Authors

Astrid C. Haugen, Christopher Halweg
Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, United States of America
Nicholas A. Di Prospero, Kenneth Fischbeck
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland, United States of America
Joel S. Parker
Expression Analysis, Durham, North Carolina, United States of America
Rick D. Fannin, Jeff Chou, Jennifer B. Collins
Laboratory of Toxicogenomics, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, United States of America
Joel N. Meyer
Nicholas School of the Environment, Duke University, Durham, North Carolina, United States of America
Alexandra Durr
Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Université Pierre et Marie Curie, Paris, France
Alexandra Durr
Département de Génétique et Embryologie, Hôpital Pitié-Salpêtrière, Paris, France
Bennett Van Houten
Department of Pharmacology and Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America
Bennett Van Houten
University of Pittsburgh Cancer Institute, Hillman Cancer Center, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America

Corresponding Author

Email: vanhoutenb@upmc.edu

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: ACH NADP KF BVH. Performed the experiments: ACH RDF CH. Analyzed the data: ACH NADP JSP JC JNM JBC BVH. Contributed reagents/materials/analysis tools: AD. Wrote the paper: ACH BVH. Helped recruit patients and collected patient samples: NADP. Extracted the RNA and ran the chips: RDF. EPIG analysis: JC. Helped with the statistics: JNM. Helped with the RT-PCR analysis of all FRDA patients and controls: CH. Helped analyze the raw expression data: JBC. Supplied blood from older FRDA patients: AD. Helped conceive the patient study: KF.