Author Archives: Jose Marques Lopes, PhD

Mutations in the OPA1 gene result in optic atrophy by disrupting the ability of a key protein to bind and stabilize the inner membrane of mitochondria, according to new research. Optic atrophy can cause problems with vision, including blindness. The study, “Structure and assembly of…

A Phase 1/2 trial of a potential Pearson syndrome treatment called Mitochondrial Augmentation Therapy (MAT) has dosed its first pediatric patient. This study of Minovia Therapeutics’s MAT is the first ever of a mitochondrial disease cell therapy. The patient was dosed at the Sheba Medical Center…

Treatment with cysteamine bitartrate, already used in patients with a rare kidney disorder, could be effective in people with mitochondrial disease, according to preclinical results. The study, “Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease,” was published in the journal…

Clinicians may be able to avoid unnecessary fear and inappropriate care by categorizing patients as “diagnosis uncertain” instead of “possible” mitochondrial disease when suspected cases have not yet been genetically confirmed, a review study suggests. In addition, a definitive diagnosis requires the detection of a disease-related genetic defect, according…

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…

Khondrion’s mitochondrial disease treatment candidate KH176 has potential to be effective in a broad range of disorders, a new study reports. The research, “KH176 Safeguards Mitochondrial Diseased Cells from Redox Stress-Induced Cell Death by Interacting with the Thioredoxin System/Peroxiredoxin Enzyme Machinery,“ was published in the journal…

People with mitochondrial disease typically can visit on average eight different doctors, and undergo multiple tests before finally getting an accurate diagnosis, a patients’ survey reports. The study  reporting its results, “The Mitochondrial Disease Patient’s Diagnostic Odyssey: Results of A Survey,” appeared in the journal Neurology Genetics and…

Researchers found that a mutation in the USMG5 gene causes Leigh syndrome and deficient energy production in cells. This is the first evidence linking alterations in this gene to a human disease. The study, “A splice-site mutation in USMG5 causes Leigh Syndrome due to lack of ATP synthesis…

The antioxidants vitamin E and N-acetylcysteine (NAC) prolonged survival and protected against brain damage in models of mitochondrial disease, a study shows. The compounds will now be tested in clinical trials. Conducted by researchers at the Children’s Hospital of Philadelphia (CHOP), the study, “N-acetylcysteine and vitamin E rescue animal…