News

In a new study entitled “Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy,” authors report to have identified in two patients with isolated myopathy (a muscular disease characterized by deficient muscle fibers resulting in muscular weakness) two novel variants in the mitochondria DNA, specifically in…

Researchers at The Children’s Hospital of Philadelphia (CHOP) headed by Marni J. Falk, M.D., director and attending physician in the Mitochondrial-Genetic Disease Clinic, focused on a group of respiratory enzymes (called respiratory chain RC enzymes), which are essential for the production of energy. When disrupted (due to mitochondrial defects and mutations…

A currently-recruiting Phase 1 clinical trial will identify if stem cell transplants are a safe treatment option for the rare disease mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). The study aims to recruit 12 patients with MNGIE and treat them with allogeneic hematopoetic stem cells collected from the bone marrow or blood…

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…

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…

A collaborative team of German and Italian researchers from the Institute of Human Genetics (Neuherberg) and the Istituto di Ricovero e Cura a Carettere Scientifico (Milan) identified mutations in the COQ4 gene that are responsible for the early-onset of mitochondrial diseases. The study entitled “COQ4 Mutations…

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…

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…