News

IOM Report on Mitochondrial Replacement Therapy Welcomed by NY Stem Cell Group

The New York Stem Cell Foundation (NYSCF), an independent organization founded in 2005 to accelerate stem cell research into possible disease cures and better treatments, applauded the National Academies of Sciences, Engineering, and Medicine’s Institute of Medicine (IOM) report upholding the use of mitochondrial replacement therapy (MRT) on ethical grounds, provided certain conditions…

Severe Mitochondrial Disease Traced to Rare Mutation in OPA1 Gene

A newly found mutation in the OPA1 gene has been linked to a mitochondrial condition involving general brain dysfunction, thickening of the heart muscle, and degeneration of the optic nerve. The report, published in the Journal of Medical Genetics, is the first to describe the severe disease consequences of…

Mitochondrial DNA Variations May Spur Symptoms in People with Form of Chronic Fatigue

Specific variations in the mitochondria DNA genome correlate with an increased likelihood of symptoms in patients with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), according to a study titled “Mitochondrial DNA variants correlate with symptoms in myalgic encephalomyelitis/chronic fatigue syndrome,” published in the Journal of Translational Medicine. ME/CFS is a rare acquired…

Mitochondrial Teamwork Within Cells Found to Regulate Calcium Flux

Penn State researchers were the first to find the mitochondrial mechanism controlling the levels of calcium inside cells. Disruption of mitochondrial calcium regulation can result in an uncontrollable rise of the molecule inside cells, contributing to a host of neurodegenerative, metabolic, and cardiovascular diseases. The study was performed in the lab of…

Regional UMDF Mitochondrial Disease Symposium Set for Feb. 12-13

The United Mitochondrial Disease Foundation’s UMDF Regional Symposium, taking place Feb. 12-13 in Houston, Texas, will include for a first time local specialists treating mitochondrial patients to further understanding and insights into managing patients with mitochondrial disease. The 2016 symposium will be hosted by McGovern Medical School’s Mitochondrial Center of Excellence…

Triple Mitochondria-DNA Mutations Not Found to Cause More Severe LHON Disease

Mitochondria-DNA mutations, whether single or triple, have the same negative impact on mitochondria function in Leber’s hereditary optic neuropathy (LHON) patients, according to a study titled “Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity” and published in the open access journal PLOS…

New Mitochondria DNA Assays May Allow for Quicker Diagnosis

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…

Drug to Treat Rare Mitochondrial Eye Disease Expanding to Eastern Europe

Santhera Pharmaceuticals recently announced an agreement with Ewopharma to make Raxone available for the treatment of a rare mitochondrial disease, known as Leber’s hereditary optic neuropathy (LHON), throughout Eastern Europe following the European Commission’s market authorization for the company’s oral drug. Under the partnership, Raxone (idebenone) will soon be a treatment option…