Bert Obermaier-Kusser

Publications (1)2.32 Total impact

• Article: A new mitochondrial point mutation in the transfer RNA Lys gene associated with progressive external ophthalmoplegia with impaired respiratory regulation.

  Joachim Wolf, Bert Obermaier-Kusser, Martina Jacobs, Cornelia Milles, Mario Mörl, Harald D von Pein, Armin J Grau, Matthias F Bauer
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  ABSTRACT: We report a novel heteroplasmic point mutation G8299A in the gene for mitochondrial tRNA(Lys) in a patient with progressive external ophthalmoplegia complicated by recurrent respiratory insufficiency. Biochemical analysis of respiratory chain complexes in muscle homogenate showed a combined complex I and IV deficiency. The transition does not represent a known neutral polymorphism and affects a position in the tRNA acceptor stem which is conserved in primates, leading to a destabilization of this functionally important domain. In vitro analysis of an essential maturation step of the tRNA transcript indicates the probable pathogenicity of this mutation. We hypothesize that there is a causal relationship between the novel G8299A transition and progressive external ophthalmoplegia with recurrent respiratory failure due to a depressed respiratory drive.
  Journal of the neurological sciences 02/2012; 316(1-2):108-11. · 2.32 Impact Factor