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Human Genetics

, Volume 88, Issue 2, pp 233–236 | Cite as

A specific point mutation in the mitochondrial genome of Caucasians with MELAS

  • C. Enter
  • J. Müller-Höcker
  • S. Zierz
  • G. Kurlemann
  • D. Pongratz
  • C. Förster
  • B. Obermaier-Kusser
  • K. -D. Gerbitz
Short Communications

Summary

The mitochondrial DNA (mtDNA) of Japanese patients suffering from the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS) exhibits a specific heteroplasmic A→G transition in the tRNALeu at position 3243. In this study, we investigated mtDNA from skeletal muscle, cardiac muscle, brain, liver, diaphragm, fibroblasts and blood cells of four Caucasians with MELAS, one younger healthy sister of two MELAS patients, and eleven controls. We found that 1) the mutation was present in all investigated tissues of Caucasians with MELAS but not in controls, 2) within a single patient, the tissue-specific variation of the copy number of mutated mtDNA covered the same range as in the skeletal muscle of different patients, 3) the mutation was also present in the blood cells of the healthy sister of two MELAS siblings.

Keywords

Internal Medicine Skeletal Muscle Blood Cell Metabolic Disease Point Mutation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • C. Enter
    • 1
  • J. Müller-Höcker
    • 2
  • S. Zierz
    • 3
  • G. Kurlemann
    • 4
  • D. Pongratz
    • 5
  • C. Förster
    • 6
  • B. Obermaier-Kusser
    • 1
  • K. -D. Gerbitz
    • 1
  1. 1.Institut für Klinische Chemie und Institut für Diabetes-Forschung, Krankenhaus München-SchwabingMünchenFederal Republic of Germany
  2. 2.Institut für Pathologie der UniversitätMünchenFederal Republic of Germany
  3. 3.Nervenklinik und Poliklinik der UniversitätBonnFederal Republic of Germany
  4. 4.Kinderklinik der Westfälischen Wilhelms UniversitätMünsterFederal Republic of Germany
  5. 5.Friedrich Baur Institut an der Universität MünchenMünchenFederal Republic of Germany
  6. 6.Hauner'sche Kinderklinik der UniversitätMünchenFederal Republic of Germany

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