Author Archives: Magdalena Kegel

Loss of mitochondrial DNA in brain cells called astrocytes may be the cause of Alpers–Huttenlocher syndrome, a severe mitochondrial neurodegenerative disease that affects young children. The study, published in the journal Nature Communications, demonstrates that while neurons die in this condition, other cells are the ultimate cause of…

The U.S. Food and Drug Administration (FDA) has granted Stealth BioTherapeutics fast track designation for elamipretide as a treatment for people with Barth syndrome, a rare mitochondrial disease. The designation may shorten the time it takes for the treatment to reach patients. Elamipretide is currently being studied in the Phase…

Researchers have discovered a key piece of information that may advance knowledge of how interactions between mitochondria and other structures contribute to neurodegeneration. A study published in the Journal of Biological Chemistry identified specific proteins that are required for interactions between mitochondria and the endoplasmic reticulum (ER), which is responsible…

Reduced exercise capacity in people with mitochondrial diseases is linked to both a heart that works inefficiently and muscles that inadequately extract oxygen, according to a study that pinned down the physiological contributions that limit a patient’s ability to perform physical activity. These mechanisms differ between patients with mitochondrial diseases and those…

Researchers in China report finding a mutation in a mitochondrial gene that causes maternally inherited hypertension, according to a study published in the Journal of Biological Chemistry. The mutation impacts protein production in the mitochondria, researchers at the Zhejiang University School of Medicine in…

[Updated 2:00 pm ET — According to multiple sources, Charlie Gard’s parents have indicated that they will withdraw their legal bid in the United Kingdom to allow their son to seek experimental treatment, citing recent MRI scans that clearly show that the therapy would likely be ineffective and could lead to pain and…

The case of Charlie Gard — a baby in the U.K. with a terminal mitochondrial disease who ended up in a legal feud over continuing life support — illustrates the need for more research and awareness of mitochondrial diseases, three non-profit organizations working with such diseases wrote in a letter…

A compound that can silence a gene in a very specific manner was adapted by researchers to be used inside mitochondria — opening the possibility of manipulating genes linked to mitochondrial diseases. MITO-PIP, as the scientists call the compound, binds to a stretch of mitochondrial DNA that is involved in several disorders,…

Tecfidera (dimethyl fumarate), an oral drug used to treat multiple sclerosis (MS), could also benefit mitochondrial disease patients as well as those with Friedreich’s ataxia (FA), concludes two studies from the University of California, Davis School of Veterinary Medicine. The first study, “Dimethyl fumarate mediates Nrf2-dependent mitochondrial biogenesis in mice and…

A mitochondria-targeting compound called mitochonic acid (MA-5) had beneficial effects on mitochondrial function, energy production, and the formation of oxidative molecules in experiments involving a mouse model of mitochondrial disease and cells from patients. The study also identified a biomarker of mitochondrial disease and the response to MA-5 — a…