Maureen Newman,  —

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.

If myoclonic epilepsy with ragged red fibers (MERRF) syndrome is caused by at least one of four point mutations in mitochondrial DNA, then curing the disease should be as easy as giving new mitochondria to patients. However, this is a theoretical treatment easier said then done because delivering mitochondria to…

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…

A simple blood or urine test, rather than an invasive muscle biopsy, may be all that is needed to diagnose mitochondrial disease in patients with peripheral neuropathy (muscle weakness or a pricking sensation in the extremities) and progressive external…

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…

If patients with Kearns-Sayre syndrome commonly are deficient in folate, logic would presume folinic acid therapy may benefit their symptoms. A team from Spain tested this theory in the article “Follow-up of Folinic Acid Supplementation for Patients with Cerebral Folate Deficiency and Kearns-Sayre Syndrome,” which was…

Chronic progressive external ophthalmoplegia (CPEO) is the most common characteristic of Kearns-Sayre syndrome, which is one member of the family of mitochondrial myopathies. Patients with CPEO may benefit from bilateral fascia lata lid suspension, a procedure explored by researchers in Brazil and Italy to correct blepharoptosis, or severe drooping of…

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…