Author Archives: Margarida Azevedo, MSc

New mutations in two mitochondrial genes, found through biopsies taken after years of complaints, led to mitochondrial complex I deficiency — with widely differing symptoms — being diagnosed in two patients, a case study reported. These findings highlight the importance of muscle biopsies taken to identify a disease, and to confirm…

A new spontaneous mutation in the MT-CYB gene — which provides instructions for making a protein called cytochrome b that plays a key role in mitochondria — was found to accelerate the progression of GRACILE syndrome, a rare mitochondrial disease, a…

Children living with genetic or mitochondrial disease in Charlotte, North Carolina, will soon be able to ride new adapted bikes donated by the ACMG Foundation for Genetic and Genomic Medicine during a special Day of Caring, as part of the ACMG’s…

Clinical trials in Britain and the United States will investigate whether a ChromaDex therapy can alleviate mitochondria disease and improve a heart condition linked to mitochondrial dysfunction. A University of Cambridge-led team will look at whether the therapy, Niagen (nicotinamide riboside), can help mitochondrial disease patients by increasing the amount of energy-generating mitrochondria…

Several U.S.-based organizations are launching a network to unify physicians who treat people with mitochondrial disease. The goal is to design better treatment guidelines and clinical priorities, and improve standards of care for patients. The governance board of the Mitochondrial Care Network is looking to work with a diverse…

NeuroVive Pharmaceutical recently reported promising progress of its Phase 1 clinical trial evaluating KL1333 as an investigational treatment for genetic mitochondrial diseases. The trial is being led in collaboration with Yungjin Pharm in Korea, and explores KL1333 as a treatment for a series of…

Khondrion has secured three new patents that protect several products, including the Dutch pharmaceutical company’s lead candidate, KH176, to treat mitochondrial disease and related conditions. KH176 is a small molecule that targets reactive oxygen species, or byproducts of mitochondria. The compound belongs to a new class of drugs that…

Mitochon Pharmaceuticals has received a grant from the Michael J. Fox Foundation for Parkinson’s Research (MJFF) to help develop its mitochondrial targeted compounds for treating Parkinson’s disease. The grant, whose amount wasn’t disclosed, will fund animal studies to evaluate the benefits of MP101 and MP102 in…

In honor of Global Mitochondrial Awareness Week, which takes place Sept. 17-23, MitoAction will host a podcast presentation by Dr. Richard Frye on how gut microbiome modulates mitochondrial function. Frye directs autism research at the Arkansas Children’s Hospital Research Institute in Little Rock. A pediatrician and neurologist, he specializes in…

Raxone (idebenone) was recently approved by the Ministry of Health in Israel as a treatment for visual impairment in adolescent and adult patients with Leber’s hereditary optic neuropathy (LHON) – a mitochondrial disease that can cause blindness. The announcement was made by the maker of Raxone, Santhera Pharmaceuticals;…