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doi:10.1534/genetics.105.043653
A more recent version of this article appeared on August 1, 2005.
REGULAR RESEARCH PAPERS |
Systematic segregation to mutant mitochondrial DNA and accompanying loss of mitochondrial DNA in human NT2 teratocarcinoma cells
Carrie J. Turner 1, Caroline Granycome 1, Rachel Hurst 1, Elizabeth Pohler 2, Katariina Juhola 3, Martti I. Juhola 3, Howard T. Jacobs 3, Lesley A. Sutherland 2 and Ian J. Holt 1*
1 MRC-Dunn Human Nutrition Unit
2 Ninewells Medical School
3 Institute of Medical Technology and Tampere University Hospital
* To whom correspondence should be addressed. E-mail: holt{at}mrc-dunn.cam.ac.uk.
Submitted on March 23, 2005
Revised on April 29, 2005
Accepted on 3 May 2005
In this study a well-characterized pathological mutation at nucleotide position 3243 of human mitochondrial DNA was introduced into human 
0 teratocarcinoma (NT2) cells. In cloned and mixed populations of NT2 cells heteroplasmic for the mutation, mitotic segregation towards increasing levels of mutant mitochondrial DNA always occurred. Rapid segregation was frequently followed by complete loss of mitochondrial DNA. These findings support the idea that pathological mitochondrial DNA mutations are particularly deleterious in specific cell-types, which can explain some of the tissue-specific aspects of mitochondrial DNA diseases. Moreover they suggest that mitochondrial DNA depletion may be an important and widespread feature of mitochondrial DNA disease.
Key Words: MELAS, mitochondrial diseases, mitochondrial dna, mitochondrial dna depletion, segregation
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