A specific point mutation in the mitochondrial genome of Caucasians with MELAS |
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| Authors: | C Enter J Müller-Höcker S Zierz G Kurlemann D Pongratz C Förster B Obermaier-Kusser K -D Gerbitz |
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| Institution: | (1) Institut für Klinische Chemie und Institut für Diabetes-Forschung, Krankenhaus München-Schwabing, Kölner Platz 1, 40 München, Federal Republic of Germany;(2) Institut für Pathologie der Universität, Thalkirchner Strasse 36, 2 München, Federal Republic of Germany;(3) Nervenklinik und Poliklinik der Universität, Sigmund-Freud-Strasse 25, Bonn, Federal Republic of Germany;(4) Kinderklinik der Westfälischen Wilhelms Universität, Albert-Schweitzer-Strasse 33, Münster, Federal Republic of Germany;(5) Friedrich Baur Institut an der Universität München, Ziemsenstrasse 1, 2 München, Federal Republic of Germany;(6) Hauner'sche Kinderklinik der Universität, Lindwurmstrasse 4, 2 München, Federal Republic of Germany |
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| Abstract: | 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. |
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