Genetically Corrected Pluripotent Stem Cells Show Promise for Mitochondrial Disease

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Last week, a new study published in Nature described a promising new approach for the treatment of metabolic disease based on genetically modified pluripotent stem cells.

The high mutation rate in the mitochondrial genome may lead to a number of significant complications, which include neurological, gastrointestinal, cardiac, respiratory, endocrinal and ophthalmological issues and diseases that often have serious, and even fatal, consequences. Avoiding or controlling such mutations has significant medical impact.

The new study described successfully generating genetically-corrected induced pluripotent stem cells (iPSCs) derived from patients with heteroplasmic mutations causing mitochondrial encephalomyopathy, stroke-like episodes and Leigh syndrome. The authors used spontaneous segregation of heteroplasmic mtDNA as well as somatic cell nuclear transfer (SCNT) enabled to generate corrected iPSCs. These genetically “corrected” displayed normal metabolic function compared to that observed in mutant cells.


The study was led by Dr. Shoukhrat Mitalipov at Oregon Health and Sciences University, together with collaborators at the Salk institute for Biological Sciences, the University of California San Diego, the Mayo Clinic and the University of Oxford.

This reprogramming approach is unique and significant in that it successfully generated “healthy” cells from mutated cells in diseased subjects, and represents a new paradigm for the potential therapeutic use of such reprogramming techniques to obtain wild-type mtDNA.


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