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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…

A federal spending bill in 2015 banned the human testing of gene-editing techniques that could lead to the “production” of genetically modified babies. But it also included two critical sentences that may have had unwanted consequences. The legislation, which is up for renewal this year, includes a technique with promising features…

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…

Mutations in a mitochondrial protein involved in the synthesis of certain essential amino acids may lead to severe hind limb function, reduced brain weight, and infertility, according to an animal study developed at the The Johns Hopkins University School of Medicine. The study, “A Spontaneous Missense Mutation…

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…

Researchers from New Zealand have shown for the first time that mitochondrial DNA (mtDNA) can leave the mitochondria, travel to the nucleus, and establish interactions with specific genes. Findings from the study “Interactions between mitochondrial and nuclear DNA in mammalian cells are non-random,” published in the journal Mitchondrion, may provide…

Researchers at the University of Missouri have successfully created embryos with maternal and paternal mitochondrial DNA (mtDNA), a feature called heteroplasmy that is thought to occur in a number of mitochondrial diseases. Their study, “Autophagy and ubiquitin–proteasome system contribute to sperm mitophagy after mammalian fertilization,” published in…

Researchers at the Zhejiang University, in China, have shown that mutations in a specific mitochondrial transfer RNA (tRNA), a type of RNA that helps decode a messenger RNA (mRNA) sequence into a protein, may lead to impaired mitochondrial protein synthesis, resulting in lower energy production and greater oxidative stress. The study, “…

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…