Author Archives: Patricia Inacio, PhD

Researchers at McGill University in Canada discovered how mitochondria may support cancer cells’ survival even during periods of nutrient starvation. The finding puts mitochondria in the spotlight as regulators of cells’ fate and suggests that therapies targeting mitochondria can aid anti-cancer strategies. The study “mTOR Controls Mitochondrial Dynamics and…

Researchers report that KH176, under development for the treatment of mitochondrial disease, is well-tolerated when administered to healthy men. The study “KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers” was published in the journal Orphanet Journal of…

The therapeutics platform developed by Mitobridge, a biopharmaceutical company developing medicines to improve mitochondria function, will now include modulators of the Nicotinamide Adenine Dinucleotide (NAD+) pathway, the company announced. NAD+ is an essential coenzyme to our cells’ metabolic reactions, cell signaling and energy production by mitochondria. A coenzyme is a small…

Researchers at the University of Exeter in England used an advanced imaging technique — electron cryo‐tomography — to show for the first time how proteins are targeted and get incorporated into mitochondria. The results provide unique detail into this process, which may prove useful for future studies…

Obesity in adulthood and fatty liver disease may be linked to impaired function of a mitochondrial gene called Ptcd1, a mouse study suggests. The research, “Adult-onset obesity is triggered by impaired mitochondrial gene expression,” was published in the journal Science Advances. Mitochondrial genes are essential for regulating energy…

Researchers at Australia’s University of Sydney have developed a blood test capable of identifying mutations in mitochondrial genes. This new test allows a faster diagnosis of rare and often undiagnosed mitochondrial diseases and, when available, will allow affected patients to get prompt treatment. The study, “Mutations in CYC1, Encoding Cytochrome c1 Subunit of…

Defects in a gene called iron-sulfur cluster assembly 1 homolog (ISCA1) were found in four children from two unrelated Indian families. These findings suggest that defects within the ISCA1 gene may underlie a new type of a mitochondrial genetic disease, called “multiple mitochondrial dysfunction syndrome.” The report “Homozygous p.(Glu87Lys) variant in…

Scientists have developed a new strategy for diagnosing mitochondrial diseases and identified the Mrps34 gene as a cause for Leigh syndrome. The study, “Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome,” was published in The American Journal of Human Genetics. Diagnosing…

Experts from multiple disciplines have released updated guidelines for the treatment and management of patients with mitochondrial diseases. The review, “Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society,” appeared in Genetics in Medicine — the official journal of the American College of Medical…

In an editorial published in the journal Pediatric Neurology, Steven G. Pavlakis, MD, comments on the findings of three studies concerning the many aspects of disease manifestation of children with mitochondrial disease. The commentary, “Filling in the Gaps of Mitochondrial Disease in Children,” underscores that, although the first…