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Stem Cells Rescue Patients from Mitochondrial Disease

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Mitochondrial diseases result from DNA mutations that lead to altered cell function. Cell injury and cell death result which can lead to multiple system failure and even death.  In the United States, up to 4,000 children are born with a type of mitochondrial disease each year. There are no treatments or cures.


Mitalipov’s and Ma’s findings offer a potential breakthrough in treating patients with the mtDNA variant of the disease. The paper, “Metabolic rescue in pluripotent cells from patients with mtDNA disease,” outlines a mitochondrial replacement method used to create a stem cell with healthy mitochondria from a patient’s skin cell containing mtDNA mutations. To conduct this study, the researchers first collected skin cells from patients with mtDNA mutations. They then recovered the nucleus from the skin cells and paired them with healthy donor cytoplasm, the material surrounding the cell’s nucleus that contains the mitochondrial DNA, from an egg. This resulted in an embryonic stem cell with healthy mitochondria.

Reinserting genetically correct cells into the patient to replace diseased tissue is more precise than traditional gene therapy, which involves inserting synthetic genes into patients via viruses. This nuclear transfer technique could pave the way for treating many diseases caused by DNA mutations.