New Research Shows One In 200 People Born With DNA Mutation That Can Lead To Devastating, Often Fatal Disease

Main Category: Genetics
Article Date: 12 Aug 2008 - 1:00 PDT

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The United Mitochondrial Disease Foundation (UMDF) announced landmark research finding that one in every 200 people has a DNA mutation that could potentially cause a mitochondrial disease in them or their offspring. Mitochondrial disease is a devastating and often fatal disease, and mitochondrial disorders are at the core of many well known diseases and chronic illnesses, such as Alzheimer's disease, Parkinson's disease and autism spectrum disorders. This research, which was partially funded by UMDF, was conducted by Patrick Chinnery, MBBS, PhD, MRCPath, FRCP, Wellcome Senior Fellow in Clinical Genetics and professor of neurogenetics at Newcastle University in the UK. Dr. Chinnery's findings are published in the current issue of the American Journal of Human Genetics.

"This ground breaking discovery confirms what researchers and experts have believed for some time - mitochondrial disease is not rare," said Charles A. Mohan, Jr., Executive Director and CEO of UMDF. "We now know that 1 in 200 people carry the mutation for this horrible, debilitating disease. This discovery underscores the need for additional research funding to help better diagnose and treat affected individuals and to learn more about how mitochondrial dysfunction is connected to other diseases."

Mitochondrial diseases are extremely complicated and often go undiagnosed or misdiagnosed for years. They develop when the mitochondria - the body's main energy source - do not function properly. Mitochondria are responsible for creating more than 90 percent of the energy needed by the body to sustain life and support growth. Because they are in almost all human cells, this "power failure" results in disease that can affect almost any body tissue. Therefore, the severity of symptoms and how the disease manifests itself can vary from person to person. One 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 neonatal cord blood samples, screening for ten specific DNA mutations related to mitochondrial disease. The study's findings establish that the incidence of new mutations and the frequency of asymptomatic carriers are not rare and emphasize the importance of developing new approaches to prevent transmission.

United Mitochondrial Disease Foundation
http://www.umdf.org

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