In an editorial published in the journal Pediatric Neurology, Steven G. Pavlakis, MD, comments on the findings of three studies concerning the many aspects of disease manifestation of children with mitochondrial disease. The commentary, “Filling in the Gaps of Mitochondrial Disease in Children,” underscores that, although the first…

NeuroVive will collaborate with the Children’s Hospital of Philadelphia (CHOP) and mitochondrial expert Marni J. Falk to evaluate experimental compounds the company is developing for the disease. NeuroVive is working on substances that are both delivery vehicles and treatments. The delivery-vehicle components get the treatments to the cells, where they activate…

The variable symptoms of mitochondrial diseases make it challenging for physicians trying to diagnose a condition. To aid their work, researchers identified clinical and molecular symptoms typical of patients carrying a specific mitochondrial mutation, and suggested genetic testing be performed when these symptoms are present. The study,“Clinical and Molecular Characteristics…

A team of researchers at NeuroVive Pharmaceuticals developed a new pharmacological strategy that could potentially be used to treat mitochondrial disease.

A mitochondrial mutation in the MT-TL1 gene, previously doubted by scientists to cause illness, was found to be linked to severe mitochondrial disease in a 15-year-old girl. The case report showed that the gene variant might indeed cause symptoms, and suggested that clinical manifestations caused by the mutation are dependent…

Canon BioMedical recently announced the addition of 72 new assays to the Novallele genotyping library, designed to allow researchers to more quickly identify single nucleotide polymorphisms (SNPs, the most common type of genetic variation among people) and other genetic modifications, like small insertions and deletions, in the human genome. The release includes two assays to detect…

Researchers recently suggested that patients with the same mutation in their nuclear DNA exhibit multiple clinical phenotypes due to alterations in the mitochondrial DNA. The study, titled “A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease,” was published in PLOS One journal. Mutations in a single…

A preliminary study found that patients with a newly identified form of mitochondria disease, called mitochondrial myopathy with episodic hyper-creatine kinase (CK)-emia (MIMECK), were able to ease their symptoms through L-arginine therapy. The study, “Clinical and Electron Microscopic Findings in Two Patients with Mitochondrial Myopathy Associated with Episodic Hyper-creatine…

NeuroVive Pharmaceutical AB, a company focused on the development of therapeutic drug candidates to treat mitochondrial diseases, announced in a press release the presentation of the first preclinical results from its Complex I Deficiency discovery program at the 6th World Congress on Targeting Mitochondria in Berlin, Germany. Complex I…

Mitochondrial myopathy is a collective term for diseases related to defective mitochondria in cells. In patients with mitochondrial myopathy, mitochondria are not able to undergo normal oxygen consumption and energy production due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA that affect the mitochondrial machinery of cells. Diseases appear most…