Pediatric Neurology
Volume 26, Issue 3 , Pages 196-200 , March 2002

Three novel SURF-1 mutations in Japanese patients with Leigh syndrome

  • Yukiko Ogawa, MD

      Affiliations

    • Corresponding Author InformationCommunications should be addressed to: Dr. Ogawa; Department of Pediatrics; School of Medicine; University of Tokushima; Kuramoto Cho 3; Tokushima, 770-8503 Japan
    • Department of Pediatrics; School of Medicine; University of Tokushima; Tokushima, Japan
    • ,
  • Etsuo Naito, MD

      Affiliations

    • Department of Pediatrics; School of Medicine; University of Tokushima; Tokushima, Japan
    • ,
  • Michinori Ito, MD

      Affiliations

    • Department of Pediatrics; School of Medicine; University of Tokushima; Tokushima, Japan
    • ,
  • Ichiro Yokota, MD

      Affiliations

    • Department of Pediatrics; School of Medicine; University of Tokushima; Tokushima, Japan
    • ,
  • Takahiko Saijo, MD

      Affiliations

    • Department of Pediatrics; School of Medicine; University of Tokushima; Tokushima, Japan
    • ,
  • Kumi Shinahara, MD

      Affiliations

    • Department of Pediatrics; School of Medicine; University of Tokushima; Tokushima, Japan
    • ,
  • Yasuhiro Kuroda, MD

      Affiliations

    • Department of Pediatrics; School of Medicine; University of Tokushima; Tokushima, Japan

Received 8 May 2001 ,Accepted 1 October 2001.

References 

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  2. Toshima K, Kuroda Y, Hashimoto T, et al.  Enzymologic studies and therapy of Leigh’s disease associated with pyruvate decarboxylase deficiency. Pediatr Res. 1982;16:430–435
  3. DiMauro S, De Vivo DC. Genetic heterogeneity in Leigh syndrome. Ann Neurol. 1996;40:5–7
  4. Tiranti V, Hoertnagel K, Carrozzo R, et al.  Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet. 1998;63:1609–1621
  5. Zhu Z, Yao J, Johns T, et al.  SURF 1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nature Genet. 1998;20:337–343
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  11. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ. Protein measurement with the Foin phenol reagent. J Biol Chem. 1951;193:265–275
  12. Goto Y, Nonaka I, Horai S. A mutation in the tRNALeu (UUR) gene associated with the MELAS subgroup of mitochondrial encephamyopathies. Nature. 1990;348:651–653
  13. Zeviani M, Amati P, Bresolin N, Antozzi C, Piccolo G, Toscano A. Rapid detection of the A→G8344 mutation of mtDNA in Italian families with myoclonus epilepsy and ragged red fibers (MERRF). Am J Hum Genet. 1991;48:203–211
  14. Tiranti V, Jaksch M, Hofmann S, et al.  Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol. 1999;46:161–166
  15. Péquignot MO, Dey R, Zeviani M, et al.  Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency. Hum Mutat. 2001;17:374–381
  16. Poyau A, Buchet K, Bouzidi MF, et al.  Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. Hum Genet. 2000;106:194–205
  17. Teraoka M, Yokoyama Y, Ninomiya S, Inoue C, Yamashita S, Seino Y. Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. Hum Genet. 1999;105:560–563
  18. Péquignot MO, Desguerre I, Dey R, et al.  New splicing-site mutations in the SURF1 gene in Leigh syndrome patients. J Biol Chem. 2001;276:15326–15329
  19. Yao J, Shoubridge EA. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Hum Mol Genet. 1999;8:2541–2549
  20. Tiranti V, Galimberti C, Nijtmans L, Bovolenta S, Perini MP, Zeviani M. Characterization of SURF-1 expression and Surf1-p function in normal and disease conditions. Hum Mol Genet. 1999;8:2533–2540

PII: S0887-8994(01)00382-4

Pediatric Neurology
Volume 26, Issue 3 , Pages 196-200 , March 2002

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