Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage

Journal of Clinical Neuroscience

Volumn 21, Issue 9, 2014, Pages 1627-1631

  Roda, Ricardo H ^a   Rinaldi, Carlo ^a   Singh, Rajat ^a,b   Schindler, Alice B ^a   Blackstone, Craig ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b Weill Cornell Graduate School of Biomedical Sciences   (United States)

Author keywords

AOA2; Autosomal recessive cerebellar ataxia; DNA repair; Helicase; Senataxin

Indexed keywords

ADULT; APRAXIA; ARTICLE; ATAXIA WITH OCULOMOTOR APRAXIA TYPE 2; CASE REPORT; CELLULAR DISTRIBUTION; CEREBELLAR ATAXIA; COLOMBIA; COMET ASSAY; DISEASE PREDISPOSITION; DNA DAMAGE; EXON; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE; GENE DELETION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; MIDDLE AGED; MISSENSE MUTATION; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN LOCALIZATION; SETX GENE; APRAXIAS; BRAIN; CELL CULTURE; CELL NUCLEUS; COGAN SYNDROME; FOREARM; GENETICS; METABOLISM; OXIDATIVE STRESS; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHYSIOLOGY;

RNA HELICASE; SETX PROTEIN, HUMAN;

APRAXIAS; BRAIN; CELL NUCLEUS; CELLS, CULTURED; CEREBELLAR ATAXIA; COGAN SYNDROME; COLOMBIA; DNA DAMAGE; FEMALE; FIBROBLASTS; FOREARM; FRAMESHIFT MUTATION; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; OXIDATIVE STRESS; PEDIGREE; PHENOTYPE; RNA HELICASES;

EID: 84905748928     PISSN: 09675868     EISSN: 15322653     Source Type: Journal    
DOI: 10.1016/j.jocn.2013.11.048     Document Type: Article

References (29)

1. M. Anheim, M. Fleury, and B. Monga et al. Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management Neurogenetics 11 2010 1 12
2. M. Anheim, B. Monga, and M. Fleury et al. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients Brain 132 2009 2688 2698
3. M. Anheim, M.C. Fleury, and J. Franques et al. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families Arch Neurol 65 2008 958 962
4. C. Criscuolo, P. Mancini, and F. Saccà et al. Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype Neurology 63 2004 2173 2175
5. C. Criscuolo, L. Chessa, and S. Di Giandomenico et al. Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study Neurology 66 2006 1207 1210
6. A. Duquette, K. Roddier, and J. McNabb-Baltar et al. Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy Ann Neurol 57 2005 408 414
7. B.L. Fogel, and S. Perlman Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2 Neurology 67 2006 2083 2084
8. I. Le Ber, N. Bouslam, and S. Rivaud-Péchoux et al. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients Brain 127 2004 759 767
9. M. Tazir, L. Ali-Pacha, and A. M'Zahem et al. Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients J Neurol Sci 278 2009 77 81
10. T. Asaka, H. Yokoji, and J. Ito et al. Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX Neurology 66 2006 1580 1581
11. L. Izatt, A.H. Németh, and A. Meesaq et al. Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised alpha-fetoprotein J Neurol 251 2004 805 812
12. M. Watanabe, Y. Sugai, and P. Concannon et al. Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein Ann Neurol 44 1998 265 269
13. I. Le Ber, A. Brice, and A. Dürr New autosomal recessive cerebellar ataxias with oculomotor apraxia Curr Neurol Neurosci Rep 5 2005 411 417
14. I. Le Ber, S. Rivaud-Péchoux, and A. Brice et al. Autosomal recessive cerebellar ataxias with oculomotor apraxia Rev Neurol (Paris) 162 2006 177 184
15. H. Date, O. Onodera, and H. Tanaka et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene Nat Genet 29 2001 184 188
16. I. Le Ber, M.-C. Moreira, and S. Rivaud-Péchoux et al. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies Brain 126 2003 2761 2772
17. M.C. Moreira, S. Klur, and M. Watanabe et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 Nat Genet 36 2004 225 227
18. C. Tranchant, M. Fleury, and M.C. Moreira et al. Phenotypic variability of aprataxin gene mutations Neurology 60 2003 868 870
19. H.H. Chun, and R.A. Gatti Ataxia-telangiectasia, an evolving phenotype DNA Repair (Amst) 3 2004 1187 1196
20. K. Savitsky, A. Bar-Shira, and S. Gilad et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase Science 268 1995 1749 1753
21. D. Hernandez, C.M. McConville, and M. Stacey et al. A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23 J Med Genet 30 1993 135 140
22. G.S. Stewart, R.S. Maser, and T. Stankovic et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia- telangiectasia-like disorder Cell 99 1999 577 587
23. Y.Z. Chen, S.H. Hashemi, and S.K. Anderson et al. Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease Neurobiol Dis 23 2006 97 108
24. D. Ursic, K. Chinchilla, and J.S. Finkel et al. Multiple protein/protein and protein/RNA interactions suggest roles for yeast DNA/RNA helicase Sen1p in transcription, transcription-coupled DNA repair and RNA processing Nucleic Acids Res 32 2004 2441 2452
25. A. Suraweera, O.J. Becherel, and P. Chen et al. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage J Cell Biol 177 2007 969 979
26. Y.Z. Chen, C.L. Bennett, and H.M. Huynh et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) Am J Hum Genet 74 2004 1128 1135
27. V.J. Mckelvey-Martin, E.T. Ho, and S.R. McKeown et al. Emerging applications of the single cell gel electrophoresis (Comet) assay. I. Management of invasive transitional cell human bladder carcinoma. II. Fluorescent in situ hybridization Comets for the identification of damaged and repaired DNA sequence Mutagenesis 13 1998 1 8
28. N.P. Singh, M.T. McCoy, and R.R. Tice et al. A simple technique for quantitation of low levels of DNA damage in individual cells Exp Cell Res 175 1988 184 191
29. G. Airoldi, A. Guidarelli, and O. Cantoni et al. Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin Neurogenetics 11 2010 91 100