Wednesday, February 8, 2023
Mitochondrial Health

New mitochondrial disease defined in identical twins

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New mitochondrial disease defined in identical twins

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Published: 18 October Izzy Wood (Drug Target Review) |

Unlike other mitochondrial diseases, a newly discovered form leads to hyperactive mitochondria and causes patients to have low body weight despite excessive food intake. Both Massachusetts General Hospital (MGH) and Children’s Hospital Philadelphia (CHOP) ‘s Children’s Hospital (CHOP) discovered a new mitochondrial disease in a number of the same twins that have not been reported before. Mitochondria are special compartments in the cells that contain their own DNA and convert food into the energy required to survive. Typically, diseases affecting mitochondria intervened in their functions, but mitochondria was hyperactive in these two patients. As reported in the New England Journal of Medicine, even though the brothers eat much more calories than they needed, their body weight remained very low. The genome sequence revealed a mutation in an enzyme called mitochondrial ATP synthase, which is necessary to produce the Energy Storage Molecule of the cells of the cells. Experiments showed that this mutation constitutes a “leaking” mitochondria, which distributes energy, a process called mitochondrial separation. Authors state that additional studies on mitochondrial separation syndromes can provide information about the differences in energy metabolism in the general population. “This is a very unusual mitochondrial phenotype. There are more than 300 rare genetic mitochondrial diseases and almost all of them are associated with mitochondria cuts, Dr. Vamsi Mootha. “A new name that emerged with hypermetoabolism and non -separated mitochondria – we recommend mitochondrial separation syndrome. These cases are very important for genetics, mitochondrial biology and metabolism. ” “These twins represent the first mitochondrial separation disorder that we can find genetic cause,” he said. “By discovering that pathogenic variants in ATP syntase may cause mitochondrial separation, these twins may be the first in a class of mitochondrial joining diseases.”


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