Author Archives: Margarida Azevedo, MSc

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…

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…

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 from the University of Helsinki recently found that a vitamin B3 form might be effective in attenuating the progression of mitochondrial myopathy. The study is published in the journal EMBO Molecular Medicine. Mitochondrial disorders are caused by respiratory chain deficiency (RCD) and are the most usual…

A recent case report of a patient with acute kidney injury who was later diagnosed with mitochondrial myopathy, titled “Recurrent episodic acute kidney injury as presenting manifestation of mitochondrial myopathy,” is published in the Indian Journal of Nephrology. Mitochondrial cytopathies (MC) are a rare…

Stealth BioTherapeutics, a biopharmaceutical company developing treatments for rare, mitochondria-related diseases, recently announced the initiation of a new clinical study of Bendavia for the treatment of Mitochondrial Myopathy (MM). Mitochondrial Myopathy (MM) is rare genetic condition that affects the mitochondria, a cell’s “center” responsible for maintaining the body’s energy, causing progressive muscle weakness.