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Published April 1991 | Published
Journal Article Open

In Vitro Genetic Transfer of Protein Synthesis and Respiration Defects to Mitochondrial DNA-Less Cells with Myopathy-Patient Mitochondria


A severe mitochondrial protein synthesis defect in myoblasts from a patient with mitochondrial myopathy was transferred with myoblast mitochondria into two genetically unrelated mitochondrial DNA (mtDNA)-less human cell lines, pointing to an mtDNA alteration as being responsible and sufficient for causing the disease. The transfer of the defect correlated with marked deficiencies in respiration and cytochrome c oxidase activity of the transformants and the presence in their mitochondria of mtDNA carrying a tRNA^(Lys) mutation. Furthermore, apparently complete segregation of the defective genotype and phenotype was observed in the transformants derived from the heterogeneous proband myoblast population, suggesting that the mtDNA heteroplasmy in this population was to a large extent intercellular. The present work thus establishes a direct link between mtDNA alteration and a biochemical defect.

Additional Information

© 1991 American Society for Microbiology. Received 8 November 1990. Accepted 11 January 1991. These investigations were supported by Public Health Service grant GM-11726 to G.A. from the National Institutes of Health and by a grant from the "Associazione Amici Centro Dino Ferrari" to G.M., N.B., and G.S. We thank Barbara Wold for the 701.2.8c cell line; Michael King for the M13mpl8 clone, for carrying out the transformation of one of the control myoblast cultures, and for technical advice; and Benneta Keeley, Arger Drew, and Lisa Tefo for technical assistance.

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