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Courtagen Life Sciences, Inc., released several new Next Generation Sequencing tests designed to evaluate people with epilepsy and mitochondrial disease. Mitochondrial diseases are inherited or chronic illness. They can occur either at birth or may develop later, and include problems with development and cognition. They may cause poor growth, lack of coordination, weakness, pain and seizures.

Results from a recent study published in the journal Cell provide a new potential therapeutic avenue for preventing the transgenerational transmission of human mitochondrial diseases caused by mutations in mtDNA, the DNA located in the mitochondria. Mitochondria are double-membrane cellular organelles of bacterial origin that play…

Mitochondrial disorders are complex conditions for which few treatments are available. Now, using microscopic worms, researchers at The Children’s Hospital of Philadelphia (CHOP), are researching if existing human drugs aimed at improving metabolism and restore shortened lifespans, can open the opportunity for human clinical trials on innovative therapies for these…

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…