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A natural RNA surveillance mechanism is crucial to maintain the integrity of mitochondria’s encoded information for protein production and prevent the accumulation of potential disease-causing molecules. The study, “Human mitochondrial degradosome prevents harmful mitochondrial R loops and mitochondrial genome instability,” was published in the journal Proceedings…

Researchers found an enzyme called alternative oxidase (AOX) that is able to bypass part of the mitochondrial respiratory chain (MRC) and alleviate symptoms of mitochondrial cardiomyopathy in a mouse model of the disease. The study, “Alternative oxidase‐mediated respiration prevents lethal mitochondrial cardiomyopathy,” was published in EMBO Molecular…

Entrada Therapeutics has raised $59 million in Series A financing to advance its intracellular enzyme replacement therapy program for treatment of a rare and deadly mitochondrial disease. Series A financing is the first round of financing given to a new business after the seed capital has been secured. One of…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…

GS010, a gene therapy developed by GenSight Biologics, improves visual acuity and quality of life in patients with Leber hereditary optic neuropathy (LHON), a rare genetic mitochondrial disease that causes vision loss, Phase 3 trial data shows. The findings are based on Week 72 data from the ongoing…

Swedish innovation agency Vinnova has awarded $166,252 (1.5 million kroner) to NeuroVive Pharmaceuticals for the preclinical development and large-scale manufacture of its therapeutic candidate NV354 for mitochondrial diseases. The funds are the first part of a total of $554,173 (5 million kroner) that Vinnova is providing under the…

A new study found rare cases of mitochondrial DNA (mtDNA) being passed down from fathers in three unrelated families. The surprising findings could lead to novel treatments for inherited mitochondrial diseases, the scientists said. The research, “Biparental Inheritance of Mitochondrial DNA in Humans,” was published in the…

Restoring a missing transfer RNA (tRNA) modification improved protein production and stability in mitochondria — the cell’s power plants — in a patient with myoclonic epilepsy with ragged red fibers (MERRF), according to new research. The study, “RNA modification landscape of the human mitochondrial tRNALys regulates protein…

Owing to its commitment to mitochondrial medicine, the Icahn School of Medicine at Mount Sinai has been designated a certified Mitochondrial Medicine Center by the Mitochondrial Care Network (MCN). The network, a growing collaborative founded by multiple national mitochondrial disease advocacy organizations, also named as field leaders Mount…

New mutations affecting the NDUFA6 gene were identified as the cause of early-onset severe mitochondrial disorder in four unrelated children, a report shows. The study, “Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency,” is the first report implicating this gene in…