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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 Cause…

Mitochondria consist of small structures having evolved from bacteria engulfed by cells. This bacterial origin explains why mitochondria has its own genetic material (mitochondrial DNA, mtDNA) distinct from the nuclear DNA (nDNA). Most mitochondrial genes were transferred to the nucleus over time, but mtDNA still codes for 13 different proteins. Though…

In a new study entitled “Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3,” an international team of researchers show that a vitamin B3 form, nicotinamide riboside, is an effective treatment against mitochondrial myopathy in adults, delaying disease progression. The study was published in the…

In a recent article published in Acta Neuropathologica Communications, a team of researchers from the University of California San Francisco reported a case of a patient with a rapid progressive adult onset scoliosis due to late-onset axial myopathy associated with multiple somatic mtDNA abnormalities but without chronic…

Researchers studied the prenatal diagnostic services provided in the UK for mitochondrial diseases since 2007. The study entitled “A national perspective on prenatal testing for mitochondrial disease” was published on 19 March, 2014 in the European Journal of Human Genetics. Mitochondrial diseases, including mitochondrial…