For more than two decades, mutations in a gene located in the DNA of mitochondria have been classified as a mitochondrial disease and linked to a particular set of symptoms. However, according to new findings from researchers at Children's Hospital of Philadelphia (CHOP), mutations in this gene, which encodes an essential part of the mitochondrial motor known as ATP synthase that generates cellular energy, are much more variable than previously thought. This prompts the need to develop more precise clinical tests that can better determine the course of treatment for patients affected by mitochondrial disorder. The study was published online on February 14. 2019 in the journal Human Mutation. The article is titled “"MT-ATP6 Mitochondrial Disease Variants: Phenotypic and Biochemical Features Analysis in 218 Published Cases and Cohort of 14 New Cases." Mitochondria are structures found within human and animal cells that are responsible for energy production. Mitochondria contain 37 genes encoded in their own DNA (mtDNA) that are separate from the DNA found inside the nucleus of the cell. Variations in more than 350 different genes located across both nuclear and mitochondrial DNA are responsible for causing mitochondrial diseases, which can typically cause more than 16 different symptoms in each patient and affect multiple organs. Mutations in the mtDNA-encoded ATP synthase membrane subunit 6 gene (MT-ATP6) are found in between 10 and 20 percent of cases of Leigh syndrome, a progressive brain disorder long recognized as a form of mitochondrial disease, and another recognizable condition known as neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome.
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