Author Archives: Magdalena Kegel

Heart mitochondria build power grid networks in a way that allows them to confine disturbances in energy flow to a small region, preventing damage to an entire muscle. The insight may help scientists further understand heart and skeletal muscle function in conditions ranging from heart to mitochondrial disease. Mitochondria, known as…

Researchers discovered a new mutation in the mitochondrial genome with disease-causing potential when screening potential patients for new mitochondrial mutations. The study, “A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease,” highlighted the importance of thoroughly screening the…

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…

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…

Advanced biochemical engineering solutions have aided researchers in obtaining new knowledge about how mitochondria control programmed cell death, a self-destruction mechanism used by damaged or old cells. In the process, researchers also learned something fundamentally new about how mitochondria create energy, partly overturning old assumptions. The study, “…

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…

Researchers have developed a way of more accurately and rapidly isolating mitochondria to allow the study of its enzymes and metabolites. The method is likely to advance research in a number of disease fields, with particular impact on studies of mitochondrial diseases. Described in the study “Absolute Quantification of Matrix Metabolites…

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…

Researchers at Temple University in Philadelphia revealed the atomic structure of a calcium channel in the mitochondrial membrane — a discovery that could lead to the development of new drugs for a wide range of conditions. Their study, “Structural Insights into Mitochondrial Calcium Uniporter Regulation by Divalent Cations,” published…

Researchers at the Charité University Medicine Berlin in Germany have, for the first time, shown that a mutation in the YME1L1 gene is linked to mitochondrial disease, identified in four children born to related parents. The study, “Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and…