Journal of the Neurological Sciences
Volume 201, Issue 1 , Pages 39-44 , 15 September 2002

Clinical and molecular features of adPEO due to mutations in the Twinkle gene

  • Sharon Lewis

      Affiliations

    • Murdoch Childrens Research Institute, The Royal Childrens Hospital, Parkville, Victoria 3052, Australia
  • ,
  • Wendy Hutchison

      Affiliations

    • Murdoch Childrens Research Institute, The Royal Childrens Hospital, Parkville, Victoria 3052, Australia
  • ,
  • Dominic Thyagarajan

      Affiliations

    • Department of Neurology, Flinders Medical Centre, Bedford Park, Adelaide, South Australia 5042 Australia
    • Melbourne Neuromuscular Research Institute, St. Vincent's Hospital, 41 Victoria Parade, Fitzroy, Victoria 3065, Australia
  • ,
  • Hans-Henrik M Dahl

      Affiliations

    • Corresponding Author InformationCorresponding author. Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia. Tel.: +61-3-8341-6253; fax: +61-3-9348-1391
    • Murdoch Childrens Research Institute, The Royal Childrens Hospital, Parkville, Victoria 3052, Australia
    • Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia

Received 29 March 2002 ,Accepted 24 May 2002.

References 

  1. Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial. Science. 1999;283(5402):689–692
  2. Chalmers RM, Brockington M, Howard RS, Lecky BR, Morgan-Hughes JA, Harding AE. Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features. J. Neurol. Sci. 1996;143(1–2):41–45
  3. Le T, Churchyard A, Hutchison K, Dennett X, Byrne E, Thyagarajan D. Atypical parkinsonism, dementia, neuropathy and autosomal dominant progressive external ophthalmoplegia with multiple deletions. Mov. Disord. 1998;13(Suppl. 2):P5.084
  4. Li FY, Tariq M, Croxen R, Morten K, Squier W, Newsom-Davis J, et al.  Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24. Neurology. 1999;53(6):1265–1271
  5. Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP, et al.  Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science. 2000;289(5480):782–785
  6. Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat. Genet. 2001;28(3):211–212
  7. Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, et al.  Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat. Genet. 2001;28(3):223–231
  8. Lewis S, Hutchison W, Di Nezza L, Thyagarajan D, Marotta R, Dahl H. Refinement of the adPEO linked locus on Chr10 and analysis of MRS4 and three other candidate genes. FEBS Lett. 2001;500(3):183–185
  9. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215
  10. Blok RB, Thorburn DR, Danks DM, Dahl HH. mtDNA deletion in a patient with symptoms of mitochondrial cytopathy but without ragged red fibers. Biochem. Mol. Med. 1995;56(1):26–30
  11. Guo S, Tabor S, Richardson CC. The linker region between the helicase and primase domains of the bacteriophage T7 gene 4 protein is critical for hexamer formation. J. Biol. Chem. 1999;274(42):30303–30309
  12. Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, et al.  An autosomal locus predisposing to deletions of mitochondrial DNA. Nat. Genet. 1995;9(2):146–151
  13. Van Geothem G, Martin JJ, Lofgren A, Fehaene I, Tack P, Van Zandycke M, et al.  Unusual presentation and clinical variability in Belgian pedigrees with progressive external ophthalmoplegia and multiple deletions of mitochondrial DNA. Eur. J. Neurol. 1997;4:476–484
  14. Kaukonen JA, Amati P, Suomalainen A, Rotig A, Piscaglia MG, Salvi F, et al.  An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am. J. Hum. Genet. 1996;58(4):763–769
  15. Suomalainen A, Majander A, Wallin M, Setala K, Kontula K, Leinonen H, et al.  Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology. 1997;48(5):1244–1253
  16. Kaukonen J, Zeviani M, Comi GP, Piscaglia MG, Peltonen L, Suomalainen A. A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia [letter]. Am. J. Hum. Genet. 1999;65(1):256–261

PII: S0022-510X(02)00190-9

Journal of the Neurological Sciences
Volume 201, Issue 1 , Pages 39-44 , 15 September 2002