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Making of mouse marks move toward 'mitochondrial medicine'

There sits in most mammalian cells what amounts to a lock-box of DNA tucked away from the bulk of genetic material. While scientists routinely cut and paste snippets of life's blueprint to learn more about life and to treat disease, crucial DNA within cellular structures known as mitochondria has remained off-limits.

That's beginning to change, though, thanks in part to work described in the Feb. 10 issue of the Proceedings of the National Academy of Sciences by a team from the University of Rochester Medical Center and the University of Melbourne in Australia. Scientists created a new kind of mouse by replacing the genetic material in the mitochondria of one species with that from another in a gene-swapping exercise necessary if doctors are to understand several currently untreatable human diseases.

"What we call mitochondrial medicine how specific mitochondrial mutations and deficiencies lead to disease didn't even exist 15 years ago. Now the field is in its infancy. The ultimate goal is improved treatment for people with disorders that currently can't be treated," says Carl A. Pinkert, Ph.D., of the Center for Aging and Developmental Biology at Rochester, who led the Rochester team.

The creation of the new kind of mouse is the result of several years of painstaking research by two groups of scientists working together across the globe. The work marks one of the most successful forays yet into the manipulation of DNA in the mitochondria, cellular structures that play a vital role in creating energy that power cells.

"We used an approach that had a high risk of failure, but one that will now provide exciting new insights into how mitochondrial genes may affect the way common diseases express themselves," says Ian Trounce of the University of Melbourne in Australia, whose team did much of the laboratory work.

Just as last summer's blackout in the Northeast touched nearly every aspect of life on a societal scale,
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Contact: Tom Rickey
trickey@admin.rochester.edu
585-275-7954
University of Rochester Medical Center
9-Feb-2004


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