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Research offers hope in battle against disease

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Like a cruel twist, mitochondrial disease can rob children of the very essence of being young.

They no longer can get up and walk, run around their backyard or just sit outside in the summer sun. Without constant monitoring, the condition can kill them before they even make it to their teenage years.

For the families who have been impacted by mitochondrial disease and the medical providers who have seen the damage it can do, there is no greater cause than working for a cure.

For the first time, the disease is now being more clearly understood. Progress is being made on treatments, and the hope is that, with increased attention, the condition can be cured entirely.

“These are the lifelines, the lifesavers that patients hold on to to try and halt the progression of the disease. We hope the future and near future offers us much more interventions with the drugs,” said Philip Yeske, science officer for the United Mitochondrial Disease Foundation.

Mitochondrial disease, which robs the cells of the ability to turn food and water into energy, has been around likely for thousands of years. The symptoms include muscle weakness, vision and hearing loss, seizures and kidney wasting.

“We all have mitochondria; and without them, we don’t live a very good life,” Yeske said.

But doctors were only able to diagnose it in the 1980s, and even then, it was only identifiable in the worst cases. For the past 20 years, it was widely believed to be fatal.

“The human body is incredibly complex. Because our limited knowledge of mitochondria and its biology, it’s meant that researchers have lacked the understanding so that drugs could be developed,” Yeske said.

Recent developments have shown that milder forms of the disease do exist, though. People can live long lives through managing it. Part of the problem is pinpointing the different types of the disease.

More than 40 varieties of mitochondrial disease have been discovered, and the potential for more types exist. The condition affects every patient in different ways. A child who looks and acts as a typical youngster most of the time could have it, as could a child who uses a wheelchair.

“With mitochondrial disease, every patient looks different. The mitochondria are in every cell, and which cells are affected is completely different,” said Center Grove area resident Katy Howe.

Howe’s daughter, Audrey, was diagnosed with mitochondrial disease in 2010. Though she has a mild form of the disease, she still has to be careful about playing too hard or overheating and damaging her body.

They have learned to control the disease through carefully monitored behavior. But the Howes realize that it’s imperative to find a cure. They have been working with the Foundation for Mitochondrial Medicine, which provides support for families with the disease as well as research.

In September, they hosted a fundraiser to get the word out about it. The event drew more than 300 people and raised more than $17,000.

But the research extends beyond just this disease. Mitochondrial disease is also connected to more well-known conditions, such as autism, muscular dystrophy, Parkinson’s disease and amyotrophic lateral sclerosis, better known as Lou Gherig’s disease.

The Foundation for Mitochondrial Medicine has just launched a partnership with the Alzheimer’s Drug Discovery Foundation to work together on potential treatments for both diseases.

“Mitochondria are implicated in all of these neurological diseases, and we see that as a good thing. If we can start to target research at the mitochondria dysfunction, that will lead to treatments not just in these diseases but others as well,” said Laura Stanley, executive director of the foundation.

The United Mitochondrial Disease Foundation was founded in 1996 to promote research and education about the disease. The organization has provided more than $11 million in grants to support research into the disease.

That work is now beginning to bear fruit.

Drug trials are being conducted by Edison Pharmaceuticals, a company in California, that would treat one form of mitochondrial disease called Leigh’s syndrome. It would represent the first pharmaceutical that’s targeted specifically for mitochondrial disease, Yeske said.

“We’re not talking about diabetes here, where there might be five or six things doctors can turn to to treat it,” Yeske said. “But we’re hitting a very exciting time period.”

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