Author Archives: Iqra Mumal, MSc

Entrada Therapeutics has raised $59 million in Series A financing to advance its intracellular enzyme replacement therapy program for treatment of a rare and deadly mitochondrial disease. Series A financing is the first round of financing given to a new business after the seed capital has been secured. One of…

Mutations in the PISD gene can cause mitochondrial disease, a new study shows. The report, “PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts and white matter changes,” appeared in the journal bioRxiv. Classic mitochondrial disease is caused by dysfunctional energy production, and symptoms usually occur in organs that…

Elesclomol, an investigational anti-cancer drug, can help treat patients with mitochondrial diseases by restoring copper in the mitochondria, a new study shows. The study, “Elesclomol restores mitochondrial function in genetic models of copper deficiency,” was published in the journal Proceedings of the National Academy of Sciences. Mitochondria are…

A mathematical model that can predict the nature of the mitochondrial DNA a child will inherit from its mother was part of a study that also found that maternal age counts in mitochondrial health, too. This part of the study, in mice, showed that the older the mother, the higher…

Two surveys of people with mitochondrial disease spotlighted factors that both motivate and hinder patients from taking part in clinical trials, and underscored the importance of working with patient advocacy groups to educate patients on the value of such trials and  encourage participation, a study based on survey results states.

NeuroVive Pharmaceutical AB and Yungjin Pharm announced positive topline results from a Phase 1 clinical trial evaluating KL1333, an investigational treatment for genetic mitochondrial diseases. The randomized, single ascending dose trial (NCT03056209) was designed to investigate the pharmacokinetics (drug movement through the body), safety, and tolerability of KL1333.

Exactly how the circadian rhythm — our 24-hour internal clocks — and mitochrondria — our cell’s energy producers — cross talk to coordinate their work and maintain cellular health appears to rest on the workings of a protein called DRP1, researchers report. Their study, “Circadian Control of DRP1 Activity Regulates Mitochondrial…

Errors in the chemical processing that takes place in the production of mitochondrial proteins may play a role in the development of certain mitochondrial diseases, scientists from Japan have found. The study, “Defective Mitochondrial tRNA Taurine Modification Activates Global Proteostress and Leads to Mitochondrial Disease,” was published in…

Mutations in genes involved in the production of mitochondrial proteins may affect the heart and brain severely during early development and lead to a poor prognosis, researchers have found. That finding is in the study “Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease,”…

Researchers used next-generation sequencing to identify NDUFB8 as a relevant gene in childhood-onset mitochondrial disease, a new study shows. The study, “NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy,” was published in the American Journal of Human Genetics. Respiratory chain complex I, one of the largest…