News

One film tells a story written by Rina Goldberg, the exuberant Philadelphia teenager who never gave up on life — even after mitochondrial disease left her unable to walk, read, remember the past and, finally, to breathe. The other is a sobering, seven-minute look at mitochondrial disease from the perspective…

Mitochondrial disorders often affect several organs, but symptoms are more likely to be evident in organs like the heart that are most dependent on oxidative metabolism — the use of oxygen to convert sugars to energy. But while the diagnosis and treatment of cardiac problems related to mitochondrial disease is advancing, it still falls…

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…

Raxone (idebenone) was recently approved by the Ministry of Health in Israel as a treatment for visual impairment in adolescent and adult patients with Leber’s hereditary optic neuropathy (LHON) – a mitochondrial disease that can cause blindness. The announcement was made by the maker of Raxone, Santhera Pharmaceuticals;…

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…

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…

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…

Variations in mitochondria DNA, the cellular powerhouses responsible for energy production, could lead to the development of autism, a new study suggests. The study, “Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders,” was recently published in…

High levels of the FGF-21 protein may be a better indicator of mitochondrial disease than many currently used diagnostic tools, a study reports. This is particularly true in adults with chronic progressive external ophthalmoplegia, whose hallmark is weakness or paralysis of extraocular muscles, researchers said. The seven extraocular muscles consist of six that control eye…