Author Archives: Patricia Inacio, PhD

In a recent study entitled “SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore”, scientists discovered that the protein SPG7 is the core component of the permeability transition pore (PTP), a structure located in mitochondria membranes, and that it plays a key role…

Santhera Pharmaceuticals, a biopharmaceutical company devoted to the investigation and commercialization of medicines for treating mitochondria and neuromuscular diseases, recently announced that the European Commission granted Raxone® a market authorization in the European Union as the first medicine for the treatment of visual impairment in adolescent and adult patients…

In a new study entitled “Kruppel-like factor 4 is critical for transcriptional control of cardiac mitochondrial homeostasis” scientists at the Case Cardiovascular Research Institute report the discovery of a mitochondria protein – Kruppel-like factor 4 (KLF4) – that is crucial for maintaining heart health and protection…

In a recent study entitled “Statin-Induced Increases in Atrophy Gene Expression Occur Independently of Changes in PGC1α Protein and Mitochondrial Content,” researchers studied how statin drugs, the most common prescribed treatment for coronary diseases, impact on skeletal muscle fibers. The team found a significant increase in muscle…

In a new study entitled “SARM1 activation triggers axon degeneration locally via NAD+ destruction” researchers discovered how a protein, SARM1, underlies axon degeneration in response to injury. The mechanism may one day be translated into clinical therapeutics for neurodegenerative diseases. The study was published in the journal…

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…

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…