High levels of the FGF-21 protein may be a better indicator of mitochondrial disease than many currently used diagnostic tools, a study reports. This is particularly true in adults with chronic progressive external ophthalmoplegia, whose hallmark is weakness or paralysis of extraocular muscles, researchers said. The seven extraocular muscles consist of six that control eye…

Researchers at Australia’s University of Sydney have developed a blood test capable of identifying mutations in mitochondrial genes. This new test allows a faster diagnosis of rare and often undiagnosed mitochondrial diseases and, when available, will allow affected patients to get prompt treatment. The study, “Mutations in CYC1, Encoding Cytochrome c1 Subunit of…

Scientists have developed a new strategy for diagnosing mitochondrial diseases and identified the Mrps34 gene as a cause for Leigh syndrome. The study, “Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome,” was published in The American Journal of Human Genetics. Diagnosing…

Experts from multiple disciplines have released updated guidelines for the treatment and management of patients with mitochondrial diseases. The review, “Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society,” appeared in Genetics in Medicine — the official journal of the American College of Medical…

Douglas Wallace, Ph.D., of the Children’s Hospital of Philadelphia, won the 2017 Dr. Paul Janssen Award for Biomedical Research for his pioneering work in the field of mitochondrial genetics. Founder and director of the Center for Mitochondrial and Epigenomic Medicine at Children’s Hospital of Philadelphia, Wallace holds the…

A new tool to help in the diagnosis and outcome prediction of mitochondrial disease has been created by researchers from the U.S. and Finland, according to a study. Findings from the study, “Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database,” appeared in the journal…

Santhera Pharmaceuticals, developer of the mitochondrial eye disease therapy Raxone, is taking a seat on the United Mitochondrial Disease Foundation industry advisory council. Dr. Jodi Wolff, who is known for her expertise on the disease and her patient advocacy work, will represent Santhera on the council. She is the company’s director…

Movement disorders are common among patients with mitochondrial diseases (MIDs). From mild tremors to severe involuntary movements, a broad spectrum of symptoms can be indicative of mitochondrial disease and should prompt an investigation as a possible diagnosis. Many people have the genetic mutations associated with MID development. They can occur in mitochondrial…

Iranian doctors have shared the case of a 14-year-old girl who developed and died of Leigh syndrome (LS) after suffering a head trauma in school. Their study, “Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: A Case Report,” appeared in the journal Emergency. LS, a rare genetic disorder associated…

Effects of mitochondrial disease on the digestive system are more widespread than previously thought according to a review article published in the journal Therapeutic Advances in Gastroenterology. Therefore it is important that the symptoms are recognized as early as possible to initiate appropriate diagnosis and avoid any treatments that might be toxic to mitochondria.