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The body’s ability to ensure error-free activity of transfer RNA (tRNA), which is essential to the production of protein, is important in the accurate operation of the mitochondria. Researchers have now found a quality-control mechanism that double-checks the correct protein sequence and may help prevent disease. The study, “Editing…

The rate of disease-causing mutations in mitochondrial DNA depends on the ethnic background and age of a specific population, researchers report. Disease-causing mutations were lower in European populations and more frequent in younger groups. The report, “Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations,” appeared…

Children affected by mitochondrial diseases who show nutritional deficiencies improve gastrointestinal symptoms, quality of life, and catch up on their development after receiving nutritional support from a feeding tube, according to researchers. The study, “Enteral Tube Feeding in Pediatric Mitochondrial Diseases,” was published in the journal Scientific…

NeuroVive Pharmaceutical recently reported promising progress of its Phase 1 clinical trial evaluating KL1333 as an investigational treatment for genetic mitochondrial diseases. The trial is being led in collaboration with Yungjin Pharm in Korea, and explores KL1333 as a treatment for a series of…

Mitochondria genetics may be more complex than previously thought, with new research reporting that DNA content can vary significantly among different mitochondria within a single cell, and between mice and people — a finding of potential importance to research that relies on mouse models of disease. The work may also…

Researchers at the University of Texas at Arlington (UTA) have identified a protein in worms that helps mitochondria handle stress and repair damage — and which may do the same in humans. Their study, “The mitochondrial unfolded protein response: signaling from the powerhouse,” appeared in the Journal of Biological…

Ambry Genetics Corporation demonstrated that defects in a gene called FDXR are associated with optic atrophy, or loss of vision, in some patients with mitochondrial disease. The company collaborated with a research laboratory and a children’s medical center to find the disease-causing mechanism and move…

GenSight Biologics has reported that a group of patients with Leber Hereditary Optic Neuropathy (LHON) who were treated with a single injection of its compound GS010, showed long-term sustained improvement in visual acuity when reassessed 2.5 years later. In a press release, Bernard Gilly, CEO and co-founder of GenSight,…

NeuroVive Pharmaceutical has made significant advances in its NVP015 program for mitochondrial diseases with the identification of a lead compound to develop in preclinical studies. Preliminary analyses in experimental models of genetic mitochondrial disease revealed one specific compound that was well tolerated and able to reach the brain, while…

The U.S. Food and Drug Administration (FDA) has granted Stealth BioTherapeutics fast track designation for elamipretide as a treatment for people with Barth syndrome, a rare mitochondrial disease. The designation may shorten the time it takes for the treatment to reach patients. Elamipretide is currently being studied in the Phase…