Patient-specific pathogenic DNA mutation in muscle stem cell genomes

Patient-specific pathogenic DNA mutations in muscle stem cell genomes refer to unique genetic alterations within satellite cells that underlie various hereditary muscle disorders. Muscle stem cells, primarily identified by the marker Pax7, are the primary source for skeletal muscle repair and regeneration [1]. When these cells harbor pathogenic mutations, such as those in the DMD gene, the resulting muscle fibers are fragile and the stem cell pool may eventually become exhausted, leading to progressive muscle wasting [2]. These mutations are considered high-priority therapeutic targets for gene-editing technologies like CRISPR-Cas9, which aim to permanently correct the genetic defect at its source [3]. By targeting the stem cell population specifically, researchers hope to ensure a long-lasting supply of healthy muscle cells, potentially offering a curative approach compared to transient protein-replacement therapies [4]. However, challenges remain regarding the efficient delivery of editing machinery to quiescent stem cells and the mitigation of off-target effects [5].

Other names

Somatic muscle stem cell mutationSatellite cell pathogenic variantPatient-specific myogenic mutationMyogenic stem cell DNA variant

Correction of specific genetic errors via homology-directed repair, base editing, or prime editing at the genomic level to restore functional protein production in myogenic lineages.