New test could make diagnosis of mitochondrial disease faster and easier

Mitochondrial disease can lead to diabetes, blindness and neurological problems. It attacks thousands of children every year, but the variety of symptoms makes it hard to diagnose.

Doctors say catching the disease early prevents serious complications and in some cases, death.

Now, there’s a new test that could give anxious families the answers they need.

Gwynnie Andrews looks like a healthy three-year-old, but her body was sending off distress signals from day one.

A droopy eye, fatigue, vomiting and flu-like symptoms were misdiagnosed for nearly two years.

Gwynnie's mom had to rush her to the ER several times.

“She was in severe metabolic decompensation and possibly several hours away from organ failure and/or sudden death,” says Beth Andrews, Gwynnie’s mother.

Dr. Richard Boles diagnosed mitochondrial disease - genetic defects in the part of the cell that produces energy.

The disease can affect multiple organs and produce a variety of symptoms, making it tough to diagnose.

Now, a new test is creating a clearer picture of the disease.

The test uses saliva or blood samples to look for mutations in any of the 37 mitochondrial genes that are vital for producing energy.

Experts say it's 3000% more sensitive than traditional screening methods.

“MitoDx looks at every single base in that mitochondrial genome, and we don't just look at it once. We look at it thousands of times,” says Dr. Steve Sommer, founder and president of MEDomics in Azusa, CA.

While there's no cure, early diagnosis can save lives like Gwynnie's.

“Some children can die as a result of complications. After diagnosis and treatment, she’s doing much better,” says Dr. Sommer.

Gwynnie gets her blood sugar levels checked daily, snacks frequently and takes supplements that have kept her out of the hospital since her diagnosis.

About one in 4000 children in the U.S. will develop mitochondrial disease by age 10.

Dr. Sommer says the turnaround time for the mitochondrial test is six to eight weeks.

Mitochondrial disease is a group of conditions that result from failures of the mitochondria, which are specialized compartments found in every cell of the body. According to the United Mitochondrial Disease Foundation, every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. Symptoms of mitochondrial disease include loss of motor control, muscle weakness, muscle pain, gastrointestinal problems, swallowing problems, poor growth, cardiac disease, liver disease, diabetes, respiratory complications and more. The wide range of symptoms, experts say, occurs because mitochondria are responsible for creating more than 90 percent of the energy needed by the body. The organs most affected by mitochondrial disease are the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems. According to Cleveland Clinic, mitochondrial disease includes more than 40 identified diseases with different genetic features. The common factor is that the mitochondria are unable to completely burn food and oxygen to generate the energy the body needs. For many patients, mitochondrial disease is caused by a genetic mutation that is inherited. Other patients develop symptoms from mitochondrial toxins or medicines that affect the mitochondria.
DIAGNOSIS: The wide range of organs affected and different manifestations of the disease can make diagnosis difficult, experts say. "Because mitochondrial disease can show up as many different things, and because there's not one perfect test for mitochondrial disease, diagnosis becomes very difficult," Richard Boles, M.D., associate professor of the Keck School of Medicine at the University of Southern California, told Ivanhoe. Doctors often arrive to a diagnosis after a combination of clinical observations, laboratory tests, brain imaging and muscles biopsies. Other tests doctors use include echocardiograms, audiology tests and genetic tests. Once diagnosed, treatment for mitochondrial disease varies from case to case. Since diseases of the mitochondria incurable, the goal of treatment is to alleviate symptoms and slow progression of the disease.
NEW GENETIC TEST FOR MITOCHONDRIAL DISEASE: A new lab test called MitoDx is designed to look for genetic mutations linked to mitochondrial disease and other genetic conditions. The test requires either a blood or saliva sample and uses a type of DNA sequencing technology that searches every base pair in mitochondria. Experts say it's like searching through an entire book looking for "typos," or mutations. "What this test does it is looks at the mitochondrial DNA and sequences or determines the genetic code at each of the over 16,000 base codes within us," Dr. Boles explained. "Not only does it do that, but it looks for small abnormalities ... [and] indicates a mutation or the genetic change that causes the disease." The MitoDx test screens for the mutations with about 30-fold -- or 3,000 percent -- greater sensitivity than comparable traditional tests, and results take about six to eight weeks to be returned, experts say.
Steve Sommer, MD, PhD, FACMG President MEDomics
626) 804-3645

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