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Heteroplasmic mitochondrial tRNA Lys mutation and its complementation in MERRF patient‐derived mitochondrial transformants
Author(s) -
Yoneda Makoto,
Miyatake Tadashi,
Attardi Giuseppe
Publication year - 1995
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880181420
Subject(s) - heteroplasmy , mitochondrial dna , mitochondrial myopathy , complementation , mutation , genetics , mitochondrial disease , biology , mutant , gene
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, p 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 p 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. © 1995 John Wiley & Sons, Inc.