AI Article Synopsis
- Human-derived experimental systems like induced pluripotent stem cells (iPSCs) help researchers understand mitochondrial disorders and develop treatments.
- Two iPSC lines were created from patient fibroblasts with different mutations in the MT-ATP6 gene, leading to distinct mitochondrial diseases: NARP syndrome and Maternally Inherited Leigh Syndrome.
- The process of reprogramming used Sendai virus to introduce factors that maintain the cells' pluripotency, and the mutation levels (heteroplasmy) remained stable after this process.
Article Abstract
Human-derived experimental systems such as induced pluripotent stem cell (iPSC)-derived models are useful tools to study mechanisms and potential therapeutic approaches for mitochondrial disorders. Here, we generated two iPSC lines from fibroblasts of patients carrying mutations at MT-ATP6 (m.8993 T>G). One patient with 96 % heteroplasmy suffered from Neuropathy, Ataxia, and Retinitis pigmentosa (NARP) syndrome, while the other patient with a homoplasmic mutation suffered from Maternally Inherited Leigh Syndrome (MILS). For reprogramming, we delivered reprogramming factors using Sendai virus and evaluated the pluripotency characteristics of the derived iPSCs. The degree of heteroplasmy remained stable after reprogramming.
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| http://dx.doi.org/10.1016/j.scr.2024.103547 | DOI Listing |
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