News

Effects of mitochondrial disease on the digestive system are more widespread than previously thought according to a review article published in the journal Therapeutic Advances in Gastroenterology. Therefore it is important that the symptoms are recognized as early as possible to initiate appropriate diagnosis and avoid any treatments that might be toxic to mitochondria.

If you or a family member has mitochondrial disease, you might want to attend the upcoming 2017 Mitochondrial Medicine Southeast Regional Symposium, organized by the United Mitochondrial Disease Foundation (UMDF), the Foundation for Mitochondrial Medicine (FMM) and the University of Alabama Birmingham (UAB). The symposium will…

A new mutation in a gene called NDUFA10 was identified as the cause of mitochondria energy metabolism deficiency in a child with Leigh syndrome (LS). This is the third study reporting NDUFA10 gene involvement in LS and its impact on disease symptoms. The case report, “Widening the Heterogeneity of Leigh…

China’s XW Laboratories and the University of Pittsburgh have signed an exclusive licensing agreement to commercialize a class of novel compounds that can be used to regulate mitochondria processes in a range of cancers and neurodegenerative diseases. Mitochondria control energy production, metabolism and stress response in cells, as well as cell death.

Mitochondrial disease spans a broad group of disorders that can be very heterogeneous. Although understanding of the disease has increased greatly in recent years,  difficulties remain in its diagnosis and management. A review article, “Mitochondrial diseases: advances and issues,” gives an in-depth account of…

CNV Beacon, a gene discovery platform that helps identify the genetic cause of rare diseases will continue to be invested in by the precision medicine company Population Bio.

Researchers studied the risk factors for mortality in children with mitochondrial disease and determined that the main causes of death were sepsis, an infection of the blood, and pneumonia. The study emphasizes the importance of early diagnosis and careful monitoring of these young patients. The paper, “Cause of Death…

GenSight Biologics has completed enrolling patients in its Phase 3 REVERSE clinical trial evaluating GS010 as a treatment for Leber’s Hereditary Optic Neuropathy (LHON). LHON is a rare inherited mitochondrial disease that is passed on by the mother. It causes degeneration of retinal cells in an offspring, leading to…

Regular physical exercise can prevent mitochondria dysfunction according to a study conducted on rats. This finding highlights the importance of physical activity on metabolic homeostasis, or equilibrium. Although the study, which was published in the scientific journal PLOS One, describes healthy mitochondria, a better understanding of the function of healthy mitochondria, can help design better therapies when things go wrong as in the case of mitochondrial disease.

Researchers discovered a new mutation in the mitochondrial genome with disease-causing potential when screening potential patients for new mitochondrial mutations. The study, “A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease,” highlighted the importance of thoroughly screening the…