Author Archives: Iqra Mumal, MSc

PISD is a Novel Mitochondrial Disease Gene, Case Report Shows

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…

Phase 1 Clinical Trial Testing Potential Mitochondrial Disease Therapy KL1333 Shows Positive Results

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.

Researchers Identify New Gene Variant Related to Childhood Mitochondrial 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…