News

In a new study entitled “Mutation in MRPS34 Compromises Protein Synthesis and Causes Mitochondrial Dysfunction,” researchers discovered a mutation in a mitochondrial ribosome that induces mitochondria dysfunction leading to heart hypertrophy and liver steatosis in mice. The study was published in the journal PLOS…

In a new study entitled “Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy,” authors report to have identified in two patients with isolated myopathy (a muscular disease characterized by deficient muscle fibers resulting in muscular weakness) two novel variants in the mitochondria DNA, specifically in…

Researchers at The Children’s Hospital of Philadelphia (CHOP) headed by Marni J. Falk, M.D., director and attending physician in the Mitochondrial-Genetic Disease Clinic, focused on a group of respiratory enzymes (called respiratory chain RC enzymes), which are essential for the production of energy. When disrupted (due to mitochondrial defects and mutations…

A collaborative team of German and Italian researchers from the Institute of Human Genetics (Neuherberg) and the Istituto di Ricovero e Cura a Carettere Scientifico (Milan) identified mutations in the COQ4 gene that are responsible for the early-onset of mitochondrial diseases. The study entitled “COQ4 Mutations…

Raptor Pharmaceuticals Inc. is looking to bring relief to a wide variety of young patients with inherited mitochondrial disease through its therapeutic called RP103 (cysteamine bitartrate delayed-release capsules). A Phase 2/3 clinical trial is currently recruiting and treating patients with diseases resulting from nuclear or mitochondrial DNA mutations, which…

A collaboration between researchers from Leeds’ St. James’s University Hospital, University College London (UCL) and the Institute of Child Health (UCL) identified a gene mutation affecting mitochondrial calcium (Ca2+) levels in individuals with muscular disease (myopathy), learning and movement deficits. The study included data collected by the UK10K Consortium and…

Mitochondria, the true energy power plants of cellular activity, play a vital role in energy production and in several other essential cellular processes, including lipid and amino acid metabolism, the urea cycle, iron sulfur cluster assembly, iron homeostasis and cell death. In their normal function, mitochondria are able to release…

As part of its ongoing effort to improve mitochondrial disease patient care, MitoAction — a nonprofit organization dedicated to improving the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, and clinical research initiatives — in collaboration with the organization’s Medical Advisory…

A new international study by scientists at the University of Granada (UGR) in Spain, the University of Wisconsin-Madison, Columbia University in New York, and Rutgers, The State University of New Jersey, has uncovered new data on the coenzyme Q10 (CoQ10), a molecule which is normally synthesized within an organism’s own…