Advances in the Potential Role and Mechanism of Fibroblasts in Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is the most common genetic disease leading to infant mortality, primarily characterized by the deficiency of survival motor neuron (SMN) protein. The effects of SMA are not limited to the nervous system but also encompass multiple cell types. Fibroblasts have been extensively employed as primary disease model cells in SMA pathophysiological studies. Here, we present a comprehensive summary of the pivotal roles fibroblasts play in SMA research, focusing on how SMN deficiency modulates the response characteristics of fibroblasts. Our findings reveal distinct reactivity patterns in fibroblasts, which serve as representative Non-neuronal cells, compared to motor neurons in SMA. This review underscores the crucial roles of fibroblasts in elucidating mechanistic changes, advancing drug discovery, and identifying reliable biomarkers for SMA. These insights underscore the indispensable potential of fibroblasts in future SMA research endeavors.