Brain and Development
Volume 34, Issue 2 , Pages 87-91 , February 2012

Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene

  • Yasutoshi Koga

      Affiliations

    • Department of Pediatrics and Child Health, Kurume University Graduate School of Medicine, 67 Asahi Machi, Kurume, Fukuoka 830-0011, Japan
    • Corresponding Author InformationCorresponding author. Tel.: +81 942 31 7565; fax: +81 942 38 1792.
    • ,
  • Nataliya Povalko

      Affiliations

    • Department of Pediatrics and Child Health, Kurume University Graduate School of Medicine, 67 Asahi Machi, Kurume, Fukuoka 830-0011, Japan
    • ,
  • Koujyu Katayama

      Affiliations

    • Department of Pediatrics and Child Health, Kurume University Graduate School of Medicine, 67 Asahi Machi, Kurume, Fukuoka 830-0011, Japan
    • ,
  • Noriko Kakimoto

      Affiliations

    • Department of Pediatrics and Child Health, Kurume University Graduate School of Medicine, 67 Asahi Machi, Kurume, Fukuoka 830-0011, Japan
    • ,
  • Toyojiro Matsuishi

      Affiliations

    • Department of Pediatrics and Child Health, Kurume University Graduate School of Medicine, 67 Asahi Machi, Kurume, Fukuoka 830-0011, Japan
    • ,
  • Etsuo Naito

      Affiliations

    • Department of Pediatrics, School of Medicine, Tokushima University, Tokushima 770-8501, Japan
    • ,
  • Masashi Tanaka

      Affiliations

    • Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, 35-2 Sakae-cho, Itabashi-ku, Tokyo 173-0015, Japan

Received 5 April 2010 ,Revised 16 January 2011 ,Accepted 1 March 2011.

References 

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  2. Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol. 2008;39:223–235
  3. Robinson BH. Lactic acidemia and mitochondrial disease. Mol Genet Met. 2006;89:3–13
  4. Rahman S, Blok RB, Dahl HH, Danks DN, Kirby DM, Chow CW, et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol. 1996;39:343–351
  5. Morris AA, Leonard JV, Brown GK, Bidouki SK, Bindoff LA, Woodward CE, et al. Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol. 1996;40:25–30
  6. Naito E, Ito M, Yokota I, Saijo T, Ogawa Y, Kuroda Y. Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency. J Neurol Sci. 2002;201:33–37
  7. Quinzii CM, Hirano M, DiMauro S. CoQ10 deficiency diseases in adults. Mitochondrion. 2007;7:S122–S126
  8. Tanaka M, Nishigaki Y, Fuku N, Ibi T, Sahashi K, Koga Y. Therapeutic potential of pyruvate therapy for mitochondrial diseases. Mitochondrion. 2007;7:399–401
  9. Komaki H, Nishigaki Y, Fuku N, Hosoya H, Murayama K, Ohtake A, et al. Pyruvate therapy on Leigh syndrome due to cytochrome c oxidase deficiency. Biochim Biophys Acta. 2010;1800:313–315
  10. Naito E, Ito M, Takeda E, Yokota I, Yoshijima S, Kuroda Y. Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia. Pediatr Res. 1994;36:340–346
  11. Matsuda J, Ito M, Naito E, Yokota I, Kuroda Y. DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidemia. J Inherit Metab Dis. 1995;18:534–546
  12. Koga Y, Akita Y, Junko N, Yatsuga S, Povalko N, Fukiyama R, et al. Endothelial dysfunction in MELAS was improved by l-arginine supplementation. Neurology. 2006;66:1766–1769
  13. Kaufmann P, Engelstad K, Wei Y, Jhung S, Sano MC, Shungu DC, et al. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology. 2006;66:324–330
  14. Miller JP, Oldendof WH. Regional kinetic constants for blood–brain barrier pyruvic acid transport in conscious rats by the monocarboxylic acid carrier. J Neurochem. 1986;46:1412–1416
  15. Long LH, Halliwell B. Artefacts in cell culture: pyruvate as a scavenger of hydrogen peroxide generated by ascorbate or epigallocatechin gallate in cell culture media. Biochem Biophys Res Commun. 2009;388:700–704
  16. Hermann HP, Pieske B, Schwarzmuller E, Keul J, Just H, Hasenfuss G. Haemodynamic effects of intracoronary pyruvate in patients with congestive heart failure: an open study. Lancet. 1999;353:1321–1323
  17. Mallet RT, Sun J, Knott EM, Sharma AB, Olivencia-Yurvati AH. Metabolic cardioprotection by pyruvate: recent progress. Exp Biol Med. 2005;230:435–443
  18. Sharma AB, Barlow MA, Yang S-H, Simpkins JW, Mallet RT. Pyruvate enhances neurological recovery following cardiopulmonary arrest and resuscitation. Resuscitation. 2008;76:108–119

PII: S0387-7604(11)00068-4

doi: 10.1016/j.braindev.2011.03.003

Brain and Development
Volume 34, Issue 2 , Pages 87-91 , February 2012

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