Self-replicative mRNA-mediated generation of induced pluripotent stem cell line from a 1-year-old Leigh syndrome patient with mitochondrial DNA cytochrome b mutation

Abstract

Leigh syndrome is a progressive neurodegenerative disease due to defects in the mitochondrial genes, including mitochondrial DNA cytochrome b (MTCYB) mutation, that typically begins in infancy or early childhood. Exercise intolerance and fatigue are common symptoms of mitochondrial disorders. Here, we generated induced pluripotent stem cell (iPSC) line from a 1-year-old patient with Leigh syndrome with MTCYB through temporal expression of exogenes, synthetic self-replicative mRNAs which were regulated by B18R protein. The established iPSCs showed expression of various pluripotency markers, a normal karyotype and differentiation potential to three germ layers in vitro while retaining MTCYB mutation.