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New Research Shows One in 200 People Born with DNA Mutation That Can Lead to Devastating, Often Fatal Disease
Date:8/11/2008

person may suffer difficulty breathing, have uncontrollable seizures and/or digestive problems, while another may not be able to walk, talk, see or hear.

"The demonstration by Dr. Chinnery and colleagues that at least one in 200 newborns harbor known pathogenic mitochondrial DNA mutations indicates that mitochondrial dysfunction is a major underlying risk factor for human disease," said Dr. Douglas C. Wallace, Donald Bren Professor of Molecular Medicine, Director of the Center for Molecular and Mitochondrial Medicine and Genetics, University of California-Irvine. "This new observation augments the rapidly expanding body of evidence indicating that common mitochondrial DNA lineages modulate the risk for developing a wide variety of diseases including diabetes, cardiovascular disease, Parkinson Disease, Alzheimer Disease, various cancers, as well as longevity."

The mitochondrial DNA encodes essential genes for mitochondrial energy production. Therefore, mitochondrial dysfunction represents a major unexplored area of human biology of vital importance to human health. Along with the diseases noted above, mitochondrial dysfunction has been implicated in autoimmune diseases such as multiple sclerosis and lupus. While it cannot yet be said that mitochondrial dysfunction causes these problems, it is clear that mitochondria are involved because their function is measurably disturbed.

"Dr. Chinnery's research raises many new questions - none of which can be answered without additional dollars allocated for research into mitochondrial disease and dysfunction," said Mohan. "This line of research holds great promise. Ultimately, the investment we make may enable doctors and researchers to transform medicine, benefiting not only those suffering from mitochondrial disease, but the many millions of Americans who suffer from the wide range of diseases related to mitochondrial dysfunction."

Dr. Chinnery's study was performed on 3000 randomly ascertained n
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SOURCE United Mitochondrial Disease Foundation
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