New Mitochondria DNA Assays May Allow for Quicker Diagnosis

Patricia Inacio, PhD avatar

by Patricia Inacio, PhD |

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DNA and assays

Canon BioMedical recently announced the addition of 72 new assays to the Novallele genotyping library, designed to allow researchers to more quickly identify single nucleotide polymorphisms (SNPs, the most common type of genetic variation among people) and other genetic modifications, like small insertions and deletions, in the human genome. The release includes two assays to detect potential disease-driven mutations in mitochondrial DNA.

Mitochondrial diseases can be hard to detect, and simple and rapid diagnostic tests are currently unavailable, with people needing to undergo extensive and thorough examinations for a diagnosis.

The new assays for mitochondrial DNA mutations allow researches to investigate deeper into the causes of mitochondrial diseases. One of mutation-detecting assays, the MELAS m.3243A>G Novallele Genotyping Assay, finds SNPs at a specific gene, the MELAS gene, which has been identified as a potential player in the development of the MELAS disorder. MELAS is short for Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome, a condition that affects not only the brain but also the nervous system (encephalo-) and muscles (myopathy), being the result of defects in the mitochondrial genome. Each SNP represents a difference in a single DNA building block, called a nucleotide.

The other, LHON m.11778G>A Novallele Genotyping Assay, allows researchers to detect SNP of the LHON gene. LHON is short for Leber’s hereditary optic neuropathy, a syndrome caused by mutations in mitochondrial DNA and characterized by degeneration of retinal ganglion cells and their axons that culminates in acute or subacute loss of central vision.

“After launching our first assays in September, we continue to actively understand and focus on areas of discovery that are challenging for researchers. Our goal is to develop genotyping tools that address all types of genetic variation pertinent to human health, and our assays detecting mitochondrial DNA mutations exemplify our capabilities to help researchers with this type of genetic research,” Akiko Tanaka, president and CEO of Canon BioMedical, said in a press release.

Canon BioMedical will present the new Novallele genotyping library on March 8, 2016, at the Molecular Medicine Tri-Conference in San Francisco, California, and on March 9 at the American College of Human Genetics in Tampa, Florida.