The U.S. Food and Drug Administration (FDA) has granted Boston-based Stealth BioTherapeutics Fast Track designation for its MTP-131 (also known as Bendavia) for the treatment of primary mitochondrial myopathy. Genetic mitochondrial diseases are a group of rare inherited disorders generally characterized by systemic mitochondrial dysfunction, impairing patients’ health and well-being. It…

Cerebellar ataxia could be caused by problems with the mitochondria in about a quarter of all people with the disease, according to a new study. Researchers from Newcastle University and the Royal Hallamshire Hospital of Sheffield in the United Kingdom used muscle biopsies to identify mitochondrial mutations as a cause of the ataxia.

Mitochondria (singular mitochondrion) are tiny subunits present inside every cell of the human body except red blood cells, from the skin to the deep internal organs. Mitochondria’s main role is transforming food and oxygen that enter the cells into useful energy, creating more than 90 percent of the energy needed by…

Findings of a new study are overturning longstanding scientific theories about how energy is distributed within muscles for powering movement. Researchers at the National Institutes of Health report the first clear evidence that muscle cells distribute energy primarily by the rapid conduction of electrical charges through a vast, interconnected network…

A study recently published in the journal Diagnostic Pathology revealed a new potential mitochondrial biomarker for colorectal cancer. The study is entitled “Mitochondrial A12308G alteration in tRNA Leu (CUN) in colorectal cancer samples” and was conducted by researchers at Kuwait University in Kuwait…

The fundraising event Hope Flies for Friends was recently held for the third time in Jacksonville, raising over $10,000 to help the Foundation for Mitochondrial Medicine and honor the local residents Lauren Quinn, Caroline Sacco and Stacy Young. The annual event included a wine tasting and included Dr. Wolfdieter Springer, whose research is being supported by the…

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.

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 Cause…

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…