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, 111^th 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.