(PRWEB) July 20, 2010
Steve Sommer, MD, PhD, Founder, President and Chief Medical Officer of MEDomics, LLC was a featured speaker at the recent “First Chinese Molecular Diagnostics Conference” held in Beijing, China. Dr. Sommer spoke about MEDomics’ experience in the genomic diagnosis of mitochondrial diseases.
For patients with histories suggestive of mitochondrial diseases, MEDomics’ MitoDx test comprehensively sequences the entire mitochondrial genome thousands of times. This test detects even very low level mutations that might disrupt the function of one or more of the thirty-seven genes required for mitochondrial energy production. Dr Sommer described how MitoDx performed on blood may be sufficient for diagnosis when placed in appropriate clinical context, thereby obviating the need for painful and expensive muscle biopsies.
Mitochondria are the powerhouses of the body’s cells. MEDomics is applying NextGen sequencing to improve the diagnosis of mitochondrial diseases. Thanks to the power of NextGen sequencing, mitochondrial diseases can be diagnosed more simply and more sensitively from blood or saliva. MitoDx sequences the 16,500 DNA bases of the whole mitochondrial DNA (abbreviated mtDNA) not once or twice but thousands of times to find mutations that may occur in only a small portion of the DNA (“heteroplasmic mutations”). These mutations are often missed in blood by conventional testing although they may be of great clinical significance in the patient. MitoDx is about 30-fold more sensitive than conventional sequencing.
Each cell contains hundreds to thousands of mitochondria genomes, providing energy for all cellular processes, including growth, division, and metabolism. Although the nuclear DNA makes up the chromosomes and provides most of each person’s“bodydesign plan”, the mitochondrial genome encodes 37 genes that are vitally important for energy production.
mtDNA originates from the mother. Thus, diseases caused by mutations in the mtDNA are generally either inherited from the mother. However, new mtDNA mutations can also arise in an individual and can strike children or adults. Maternally inherited or newly acquired mtDNA mutations can decrease energy production, with damaging effects on multiple organs in the body.
According to Dr. Sommer, “This new test based on Next Generation sequencing improves the utilization of blood tests to evaluate patients suspected to have mitochondrial diseases. Use of the more sensitive test will lead to better diagnosis and the identification of patients who would have not been identified using conventional clinical tests.” The Next Generation mitochondrial genome test for mtDNA mutations can offer physicians: confirmation of a possible mitochondrial disease diagnosis, enable rational therapy,and provide prognostic information for enhanced familial risk counseling
MEDomics, LLC (http://www.medomics.com) 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 analysis of the patient's genome ("omics"). MEDomics is the first CLIA Certified Laboratory specializing in the clinical diagnostic application of Next Generation sequencing. The mutation experts at MEDomics provide unparalleled quality interpretation to aid the practicing physician.
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