Researchers at UT Southwestern Medical Center at Dallas have shown for the first time that the multiple copies of mtDNA in a single cell are transmitted in an organized and finite fashion and not in a random fashion as was previously thought. The research, using yeast as a model organism, was published in the Aug. 10 issue of the Journal of Cell Biology. Dr. Ron Butow, professor of molecular biology and oncology, and colleagues believe their results may directly apply to humans.
"Studies over the last 10 to 15 years have demonstrated that many genes in yeast are present in animals, and that you can swap them out," said Butow. "Basic biological processes are well-conserved between yeast and humans. That has been borne out over and over again."
Genetic disorders caused by mutations in mtDNA include a variety of neuromuscular lesions and muscle-tissue diseases, and they are inherited from the mother. However, the mother passes only a minority of her thousands of mtDNA copies to the fertilized egg, which develops into a fetus. She may have only a small proportion of mutant mtDNA molecules and not show signs of illness. But her offspring may have the disease, depending on the ratio of mutant to normal mtDNA they receive.
"The proportion of mutant to normal mtDNA accounts for disease severity --
this is a segregation issue," said Butow, holder of the Beatrice and Miguel
Elias Distinguished Chair in Biomedical Science. "Our work has a direct
bearing on some human diseases where normal mtDNA fails to be inherited
efficiently in the face of mutant mtDNAs. The results in yeast clearly say
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Contact: Heather Stieglitz
heather.stieglitz@email.swmed.edu
(214) 648-3404
UT Southwestern Medical Center
11-Sep-1998