Funding research on mitochondrial disease could provide needed breakthrough

With healthcare on the minds of many in Washington as Congress works to reform our country's healthcare delivery system, there is a growing consensus and excitement among some scientists that we may be on the threshold of a revolutionary scientific discovery in medical research. The breakthrough involves the mitochondria and the role they play in human diseases. Leaders in the House and the Senate have crafted legislation to advance scientific research efforts at the National Institutes of Health (NIH).

You may recall learning in high school biology that mitochondria are often referred to as the "powerhouse" of the cells because they provide energy for the body to run our organs and sustain life. When the mitochondria are functioning properly they generate energy by burning the food we eat with the oxygen that we breathe.

Sometimes a genetic defect or toxic exposure reduces the ability of the mitochondria to function properly and the result is a wide spectrum of problems and diseases. As the mitochondria fail to produce enough energy, cells do not function properly and may die. Organ systems begin to fail and the life of the individual is compromised. 

Mitochondrial disease can be incredibly difficult to diagnose and it is not uncommon for patients to spend years traveling from one physician to another in search of a correct answer to what ails them. There are currently no universal screening to test for mitochondrial disease and further there is no definitive treatment for those who have been diagnosed. It is difficult to estimate the true number of those suffering from mitochondrial disease because it is often misdiagnosed but, every 15 minutes a child is born who will get mitochondrial disease by age 10.

Additionally, research has consistently shown that mitochondrial dysfunction is at the core of many very common illnesses and chronic conditions of adulthood including Alzheimer’s Dementia, Parkinson’s disease, diabetes, hypertension, heart disease, osteoporosis, cancer and even the aging process itself. Improvement of our basic understanding of mitochondrial dysfunction has the ability to literally transform medicine. 

The science of mitochondrial dysfunction is in the truest sense a fundamental area of "cross-cutting" research. NIH has taken an increased interest in mitochondrial disease and dysfunction and sponsored a number of activities aimed at advancing this science. The NIH recently funded the creation of the North American Mitochondrial Disease Consortium. Institute Directors of the NIH recommended that mitochondrial disorders be considered as one of their “Roadmap Initiatives.” In addition, various NIH Institutes and Centers have been involved in mitochondrial research for a number of years. Encouraging the coordination of these efforts will only enhance what we know about mitochondria and advance other research efforts.

Rep. Jim McDermott (D-Wash.) and 29 other members of the House of Representatives and Sens. Barbara Boxer (D-Calif.), Dick Durbin (D-Ill.), Bob Casey Jr. (D-Pa.) and John Kerry (D-Mass.) are championing the effort to promote an enhanced research effort aimed at improved understanding of mitochondria. H.R. 3502 and S. 2858 would create an Office of Mitochondrial Medicine at the NIH to coordinate all ongoing mitochondrial research efforts within the NIH. This type of information sharing could lead to many advances at our nation's premiere biomedical research agency. 

We may be at the threshold of what could be a paradigm shift in our theories of the medical universe. Perhaps there is a universal biologic theory for why cells fail to function properly and it rests within the mitochondria. The challenge is once again before us to take on the bold adventures that will lead science into new frontiers.

Expanding research into mitochondrial disease would not only help thousands of people afflicted by this terrible progressive illness, but it would also open new avenues of treatment to help greater than 50 million people suffering other common medical ailments. We must act with vision and be grand in our thinking. As a first step, 111th Congress should enact H.R. 3502 and S. 2858.

 

Howard A. Zucker, M.D., J.D., is a member of the board of the United Mitochondrial Disease Foundation and former Assistant Director-General of the World Health Organization and former U.S. Deputy Assistant Secretary of Health. To learn more about mitochondrial disease and research please visit www.umdf.org.