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Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a comparative study.

Abstract
Of 50 patients with the clinical characteristics of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), 38 had a point mutation at nucleotide position (nt) 3243 in the tRNA(Leu(UUR)) region in mitochondrial DNA and 6 at nt 3271 in the same tRNA(Leu(UUR)) gene. Except for the later onset of the disease in the patients with the 3271 mutation, there were no clinical, biochemical and pathological differences between the two groups. Since the nt 3271 region is not located in the binding site for mitochondrial transcription termination (mTERM) factor, which has been proposed to be defective in the 3243 mutation, a functional defect in tRNA itself might be responsible for the enzyme defects in MELAS patients; however the mechanism by which the defective tRNA(Leu(UUR)) induces the stroke-like episodes remains to be clarified.
AuthorsR Sakuta, Y Goto, S Horai, I Nonaka
JournalJournal of the neurological sciences (J Neurol Sci) Vol. 115 Issue 2 Pg. 158-60 (Apr 1993) ISSN: 0022-510X [Print] Netherlands
PMID8482977 (Publication Type: Comparative Study, Journal Article)
Chemical References
  • DNA, Mitochondrial
Topics
  • Adolescent
  • Adult
  • Base Sequence
  • Child
  • Child, Preschool
  • DNA, Mitochondrial (genetics)
  • Female
  • Humans
  • Intelligence
  • MELAS Syndrome (diagnostic imaging, genetics, psychology)
  • Male
  • Middle Aged
  • Point Mutation
  • Tomography, X-Ray Computed

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