Patient-specific mutant DNA loci in muscle stem cell genomes

Patient-specific mutant DNA loci in muscle stem cell genomes refer to unique genetic alterations found within satellite cells, the resident stem cells responsible for skeletal muscle repair and homeostasis (Nature Communications, 2023). These loci are primary targets for precision gene therapies, particularly in conditions like Duchenne Muscular Dystrophy (DMD), where specific mutations in the DMD gene disrupt muscle integrity (PubMed, PMC7055113). By utilizing gene-editing technologies such as CRISPR-Cas9 or prime editors, researchers aim to correct these mutations directly within the stem cell population to ensure a permanent supply of functional muscle cells (Stem Cell Reports, 2020). The accumulation of somatic mutations in these loci is also linked to age-related muscle decline and sarcopenia, making them a focus for regenerative medicine (Aging Cell, 2021). Therapeutic strategies involve the delivery of molecular tools to quiescent or activated satellite cells to restore the expression of essential proteins like dystrophin. However, challenges remain regarding the efficiency of targeting these cells in vivo and the potential for off-target effects at other genomic sites (Frontiers in Genetics, 2021). This target class represents a shift toward personalized genomic medicine in the treatment of neuromuscular disorders.

Other names

Somatic mutations in satellite cellsPatient-specific myogenic variantsMuscle stem cell genomic mutationsSatellite cell mutant DNA

Site-specific genomic modification to restore or alter gene function via direct DNA correction or disruption.