Mitochondrial disease requires federal help

Tue, 12/02/2008 - 3:32pm
By: Letters to the ...

Many have labeled mitochondrial disease a “rare disease” about which little is known. While there is still more to be learned, we actually know a great deal about mitochondrial disease.

Mitochondrial diseases are not as rare as first thought. A recent study published in the American Journal of Human Genetics conducted by Dr. Patrick Chinnery and researchers at Newcastle University in the UK found that one in every 200 people has a mitochondrial DNA mutation that could cause a mitochondrial disease in the children of women who carry the mutation.

Dr. Chinnery’s findings demand that the federal government move now to provide the research funding necessary to prevent these mutations from being passed down, generation after generation.

We also know that know that:

• More than one in 4,000 children in the United States will develop a mitochondrial disease by the age of 10;

• Every 30 minutes, a child is born with a type of mitochondrial disease;

• The reason for this broad range is that majority of these diseases are very difficult to diagnose;

• This is a disease which has no effective treatment and no cure; and

• While symptoms vary greatly, mitochondrial disease can lead to muscle weakness, blindness, deafness, even unexplained strokes and seizures, and eventually death.

• Mitochondrial dysfunction has been implicated in Alzheimer’s disease, Parkinson’s disease, diabetes, hypertension, heart disease, osteoporosis, cancer and the aging process itself.

In fact, the National Institutes of Health recently recognized the importance of mitochondrial disease research by considering mitochondrial disease for an NIH Roadmap for Medical Research.

Committing the appropriate resources to examining mitochondrial disease and mitochondrial dysfunction now could not only help to develop better treatments and diagnostics for mitochondrial disease, it could also help researchers to open a new world of medical knowledge and pave the way for developing better diagnostics and treatments for a range of other diseases — ultimately alleviating suffering and transforming medicine as we know it.

I urge your newspaper and your readers to contact your elected officials and tell them you support increased research funding for mitochondrial disease research. We can’t afford not to.

Debra Ketelsen

Sharpsburg, Ga.

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