Leigh syndrome

In Vitro Study Shows Positive Effects of Ketogenic Diet on Mitochondrial Function in 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…

Whole Exome Sequencing Useful to Diagnose Leigh Syndrome

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.

Study Investigates Simple Diagnosis for Cytochrome c Oxidase Deficiency

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…