Leigh syndrome

Researchers recently tested the effects of the high-fat, low carbohydrate ketogenic diet on fibroblasts from patients with Leigh syndrome (LS), focusing on decanoic acid. The results suggest that this component had beneficial effects on mitochondrial function, decreasing reactive oxygen species (ROS) and improving mitochondrial respiration. Therefore, the effects of this…

Mitochondrial myopathy is a collective term for diseases related to defective mitochondria in cells. In patients with mitochondrial myopathy, mitochondria are not able to undergo normal oxygen consumption and energy production due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA that affect the mitochondrial machinery of cells. Diseases appear most…

A recent study led by a large international research team recently characterized a new mitochondrial disease associated with specific gene mutations. The study is entitled “Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement” and was published in the journal Annals of Clinical and Translational Neurology.

Even if two individuals are affected by the same disease, such as Leigh syndrome, they may not have identical symptoms or causes of disease. For example, Leigh syndrome is associated with over 30 gene mutations, making it difficult to use single-gene identification as a cost-effective means of pinpointing Leigh syndrome.

Children with mitochondrial disorders most commonly are deficient in cytochrome c oxidase (CIV), a protein involved in the electron transport chain the membrane of the mitochondria. The gold standard way of diagnosing CIV deficiency is taking a muscle biopsy and conducting a biochemical analysis on the tissue. Small children experience…

Raptor Pharmaceuticals Inc. is looking to bring relief to a wide variety of young patients with inherited mitochondrial disease through its therapeutic called RP103 (cysteamine bitartrate delayed-release capsules). A Phase 2/3 clinical trial is currently recruiting and treating patients with diseases resulting from nuclear or mitochondrial DNA mutations, which include…

Edison Pharmaceuticals is actively engaged in a number of phase 2 clinical trials investigating their drug candidate EPI-743 in a variety of mitochondrial respiratory chain diseases. The studies range from the more general “EPI-743 for Mitochondrial Respiratory Chain Diseases” to the more…