Mitochondrial disease spans a broad group of disorders that can be very heterogeneous. Although understanding of the disease has increased greatly in recent years,  difficulties remain in its diagnosis and management. A review article, “Mitochondrial diseases: advances and issues,” gives an in-depth account of…

Researchers studied the risk factors for mortality in children with mitochondrial disease and determined that the main causes of death were sepsis, an infection of the blood, and pneumonia. The study emphasizes the importance of early diagnosis and careful monitoring of these young patients. The paper, “Cause of Death…

A new technique called in vitro gametogenesis (IVG) where any type of adult cell can be reprogramed to become an egg or sperm cell could in theory be used to prevent mitochondrial disease.

For women with mitochondrial disease living in the U.K., having a healthy baby is about to become a reality, as the Human Fertilization and Embryology Authority (HFEA) is expected to endorse recent recommendations from scientists to approve mitochondrial replacement therapy. Meanwhile, the Guardian reports that scientists at Newcastle…

Researchers have conducted a thorough review that highlights several heart diseases associated with mitochondrial disease (MD), as well as the clinical features of cardiac MD and current therapies to manage the condition. The study, “Mitochondrial Disease And The Heart” and published in the journal Heart , was conducted…

A noninvasive method for analyzing the effectiveness of mitochondrial energy production in individual muscle groups shows promise to improve assessments in people with mitochondrial disease. Researchers hope the new method will complement current methods, based on magnetic resonance spectroscopy, to improve diagnostics, long-term monitoring, and evaluation of treatment response in…

In a major effort to better understand the molecular workings of mitochondria, researchers discovered how 31 proteins contribute to mitochondrial functionality, identifying two additional factors that may be used to improve diagnostics of mitochondrial disease. So far, mutations in the genes coding for the two proteins have not been linked to mitochondrial…

The variable symptoms of mitochondrial diseases make it challenging for physicians trying to diagnose a condition. To aid their work, researchers identified clinical and molecular symptoms typical of patients carrying a specific mitochondrial mutation, and suggested genetic testing be performed when these symptoms are present. The study,“Clinical and Molecular Characteristics…

A recent study added new mutations to the short list of mutations identified within the MT-PT gene, which are known to cause mitochondrial myopathy. The study, led by Steven Hardy, PhD, from Newcastle University in England, is titled “Pathogenic mtDna Mutations Causing Mitochondrial Myopathy: The Need For Muscle Biopsy,” and…

Patients with mitochondrial disorders may be more rapidly diagnosed with a new genetic test developed by researchers at the Wellcome Trust Center for Mitochondrial Research. The new test is described in the study “Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype,” published…