Neuromuscular Disorders
Volume 20, Issue 3 , Pages 198-203 , March 2010

Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion

  • Nicole Lesko

      Affiliations

    • Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, 141 86 Stockholm, Sweden
    • Corresponding Author InformationCorresponding author. Tel.: +46 8 5858 2784; fax: +46 8 5858 2760.
    • ,
  • Karin Naess

      Affiliations

    • Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, 141 86 Stockholm, Sweden
    • Department of Clinical Sciences, Karolinska Institutet, 141 86 Stockholm, Sweden
    • ,
  • Rolf Wibom

      Affiliations

    • Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, 141 86 Stockholm, Sweden
    • ,
  • Nicola Solaroli

      Affiliations

    • Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, 141 86 Stockholm, Sweden
    • ,
  • Inger Nennesmo

      Affiliations

    • Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, 141 86 Stockholm, Sweden
    • ,
  • Ulrika von Döbeln

      Affiliations

    • Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, 141 86 Stockholm, Sweden
    • ,
  • Anna Karlsson

      Affiliations

    • Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, 141 86 Stockholm, Sweden
    • ,
  • Nils-Göran Larsson

      Affiliations

    • Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, 141 86 Stockholm, Sweden
    • Max Planck Institute for Biology of Ageing, Gleueler Strasse 50a, D-50931 Cologne, Germany

Received 12 August 2009 ,Revised 9 November 2009 ,Accepted 25 November 2009.

References 

  1. Moraes CT, Shanske S, Tritschler HJ, et al. MtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991;48:492–501
  2. Mandel H, Szargel R, Labay V, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet. 2001;29:337–341
  3. Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet. 2001;29:342–344
  4. Oskoui M, Davidzon G, Pascual J, et al. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. Arch Neurol. 2006;63:1122–1126
  5. Wibom R, Hagenfeldt L, von Döbeln U. Measurement of ATP production and respiratory chain enzyme activities in mitochondria isolated from small muscle biopsy samples. Anal Biochem. 2002;311:129–151
  6. Larsson NG, Oldfors A. Mitochondrial myopathies. Acta Physiol Scand. 2001;171:385–393
  7. Saada A, Shaag A, Elpeleg O. MtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency. Mol Genet Metab. 2003;79:1–5
  8. Götz A, Isohanni P, Pihko H, et al. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome. Brain. 2008;131:2841–2850

PII: S0960-8966(09)00697-X

doi: 10.1016/j.nmd.2009.11.013

Neuromuscular Disorders
Volume 20, Issue 3 , Pages 198-203 , March 2010

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