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  • Title: Heteroplasmic mitochondrial tRNA(Lys) mutation and its complementation in MERRF patient-derived mitochondrial transformants.
    Author: Yoneda M, Miyatake T, Attardi G.
    Journal: Muscle Nerve Suppl; 1995; 3():S95-101. PubMed ID: 7603536.
    Abstract:
    The heteroplasmic tRNA(Lys) mutation in the mitochondrial DNA (mtDNA) is responsible for the phenotypic expression and the transmission of MERRF syndrome. However, the genetic behaviors of the mutant and wild-type mtDNA molecules within a cell are still unknown. We demonstrated a clear genetic complementation of the mutant and wild-type mtDNAs, with a sharp threshold around 10% in the wild-type, in the MERRF transformants, and in their subclones by a cytoplast transfer of the mitochondria into an mtDNA-less cell line, rho o cell. By contrast, no interaction was observed between the two functionally complementary mtDNAs that were originally located in distinct organelles and sequentially introduced into a rho o cell line (genetic independence). These results imply that the sorting of the mtDNA molecules among mitochondria plays a crucial role in the phenotypic expression and transmission of the disease.
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