Author Archives: Janet Stewart, MSc

Researchers at the University of Texas at Arlington (UTA) have identified a protein in worms that helps mitochondria handle stress and repair damage — and which may do the same in humans. Their study, “The mitochondrial unfolded protein response: signaling from the powerhouse,” appeared in the Journal of Biological…

Ambry Genetics Corporation demonstrated that defects in a gene called FDXR are associated with optic atrophy, or loss of vision, in some patients with mitochondrial disease. The company collaborated with a research laboratory and a children’s medical center to find the disease-causing mechanism and move…

KH176 by Khondrion had a favorable safety profile and improved depression and migraine in some forms of mitochondrial disease, according to preliminary results from an ongoing Phase 2 trial. The study included carriers of a gene defect called m.3243A>G who have MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) and…

Researchers found that patients with different types of mitochondrial disease have higher rates of headaches compared to the general population. Tension-type headaches (TTH) were more frequent than migraines among this patient population, the study found. The study, “Prevalence of Headache in Patients With Mitochondrial Disease: A Cross-Sectional Study,” was…

Researchers have found that quaternary ammonium compounds, or “quats,” used as antimicrobial agents in common household and pharmaceuticals products, inhibited mitochondrial function in human cells grown in the laboratory. One of them, benzalkonium chloride (BAK), is often used in eye drops. The researchers tested over 1,600 compounds for their effects…

Douglas Wallace, Ph.D., of the Children’s Hospital of Philadelphia, won the 2017 Dr. Paul Janssen Award for Biomedical Research for his pioneering work in the field of mitochondrial genetics. Founder and director of the Center for Mitochondrial and Epigenomic Medicine at Children’s Hospital of Philadelphia, Wallace holds the…

Researchers studied the risk factors for mortality in children with mitochondrial disease and determined that the main causes of death were sepsis, an infection of the blood, and pneumonia. The study emphasizes the importance of early diagnosis and careful monitoring of these young patients. The paper, “Cause of Death…