Tuesday, September 28, 2010

New Development in Testing for Mitochondrial Disease

A new test which may be more accurate and sensitive for diagnosing (or perhaps ruling out?) mitochondrial disease was announced. This new development in testing comes from MEDomics. As a family who has gone through so many tests and procedures hoping to find answers, I am hopeful but apprehensive. What is the cost of the test? The availability? Can it definitively diagnose or in the absence of diagnosis, definitively rule out mitochondrial disease? But I have to ask so many questions because for our family there still are not answers. And so I am quite interested in learning more about developments like this to help us finally have those answers.

Here is a copy of the press release:

PRLog (Press Release)Sep 28, 2010 – Los Angeles, CA – Mitochondrial diseases - little-known and often misdiagnosed affect millions of people, especially children with devastating consequences. But a new and more sensitive test can provide earlier, more accurate diagnosis and allow potentially life- saving treatment to begin sooner.

MEDomics, LLC, has completed its second set of novel MitoDx™ personalized medicine tests for the diagnosis of mitochondrial diseases.

“The first MitoDx test was performed on a young girl (referred to as Ann) with mitochondrial disease and hypoglycemia”, says Steve Sommer, MD, PhD, Founder and Medical Director of MEDomics. Ann had episodic vomiting that lasted hours or even days. She often had periods of lethargy and fatigue. Ann was sensitive to both heat and cold, and had poor muscle tone and poor coordination. She has had multiple hospitalizations and almost died. After inconclusive testing and several misdiagnoses, Ann was ultimately referred to Richard Boles, MD, a specialist in pediatric mitochondrial disease at Children's Hospital Los Angeles where she was diagnosed clinically with probable mitochondrial disease.

Ann’s entire mitochondrial genome was sequenced, not once or twice, but thousands of times. The revolutionary SOLiD NextGen sequencing platform developed by Life Technologies was used for testing because of its low error rate and high throughput. This rigorous sequencing of mitochondrial DNA by MitoDx can detect mixtures (heteroplasmy) of normal and mutant DNA even when the mutant or normal form is present at very low levels. This allows mitochondrial disease to be evaluated much more sensitively in an accessible tissue like blood or saliva.

The MEDomics team of experts, provides interpretation of the functional significance of detected mutations. This comprehensive test offers exceptionally high diagnostic utility for suspected mitochondrial disease, enabling potentially lifesaving therapy and accurate risk counseling.

Richard Boles, MD, the Director of the Mitochondrial and Metabolic Disorders Clinic at Childrens Hospital Los Angeles says, “MitoDx has confirmed the patient’s clinical diagnosis of probable mitochondrial disease. The MitoDx diagnosis of mitochondrial disease has helped Ann and her family in the following ways:

* the family now has a diagnosis synergistically supported by clinical and laboratory evidence
* the location of the putative mutation suggests that Ann’s life-threatening hypoglycemia will improve as she gets older
* Ann’s clinical management will be modified
* Ann’s asymptomatic sister can be tested to assess the likelihood that she will have symptomatic mitochondrial disease in the future
* other family members, including Ann’s aunt, can be tested to determine their risk of having a child with mitochondrial disease. “

Mitochondrial diseases can be difficult to diagnose. Organs generally have different levels of the mutation, so the symptoms are extremely diverse and depend on which tissues happen to be the most energy compromised in a given family member. The most commonly affected organs are brain, muscle, eye, gastrointestinal tract, and heart. If a given mutation is at high frequency in the brain and intestine, neurological and gastrointestinal symptoms may predominate; if the mutation is at high frequency in the muscle and intestine in a sibling, neuromuscular and gastrointestinal symptoms may predominate.

Dr. Sommer says, “While there is no cure as yet, the diagnosis of mitochondrial disease can save lives by enabling effective treatment. Current treatment involves increasing available energy, decreasing energy stressors, and tissue-specific treatments.”

For more information on MitoDx and diagnosis of mitochondrial disease, visit http://www.medomics.com

About MEDomics:
MEDomics is a molecular diagnostic laboratory founded in 2008 by Steve S. Sommer, MD, PhD, with the mission of providing Mutation Expert-based Diagnosis (“MED”) to support the physician in delivering personalized medicine based on genomic analyses of the patient’s DNA (“omics”). The mutation experts at MEDomics provide unparalleled quality interpretation to aid the practicing physician.

Dr. Sommer, Founder, President, and Medical Director of MEDomics, is a Founding Fellow of the American College of Medical Genetics with 25 years experience in Clinical Molecular Diagnosis and over 300 scientific publications and patents. Carolyn Buzin, PhD, is a MEDomics Senior Scientist, a California licensed Clinical Genetics Molecular Biologist Scientist, and a mutation expert in mitochondrial disease. Richard Boles, MD, Director of the Mitochondrial and Metabolic Disorders Clinic at Childrens Hospital Los Angeles, is a distinguished clinical consultant for MEDomics on mitochondrial diseases.

Sunday, September 19, 2010

Know About MITO


Mitochondrial Disease Awareness Week (Sept 19 - 25)

What do you know about mito? Mitochondrial Disease? Mitochondrial disease is a chronic, genetic* disorder. that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function.

Did you know...
  • The disease is approaching the frequency of childhood cancers.
  • There is no reliable and consistent means of diagnosis.
  • Mitochondrial disease presents very differently from individual to individual.
  • There is no reliable and consistent means of diagnosis for mitochondrial disease.
  • Diagnosis can be made by one of the few physicians that specializes in mitochondrial disease.
  • Though blood DNA testing and/or muscle biopsy can be used to diagnose mitochondrial disease, neither of these tests are completely reliable and are also costly.
  • The incidence is about 1:3000-4000 individuals in the US. This is similar to the incidence of cystic fibrosis of caucasian births in the U.S.
  • There are many forms of mitochondrial disease
  • Mitochondria exist in nearly every cell of the human body, producing 90 percent of the energy the body needs to function.
  • Mitochondrial disease is inherited in a number of different ways
  • There may be one individual in a family or many individuals affected over a number of generations.
  • About one in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years.
  • In adults, many diseases of aging have been found to have defects of mitochondrial function, including (but not limited t0) type 2 diabetes, Parkinson's disease, atherosclerotic heart disease, stroke, Alzheimer's disease, and cancer. In addition, many medicines can injure the mitochondria.
  • Even a simple flu or cold virus can have devastating effects on the patient with mitochondrial disease, even death.
  • Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10
Learn more at UMDF and MitoAction! Then spread the word. Know about Mito!

*An uncertain percentage of patients acquire symptoms due to other factors, including mitochondrial toxins.