Introduction of Spinal Muscular Atrophy Disease and the Latest Treatment Approaches Based on Gene Therapy

Spinal muscular atrophy (SMA) is a prevalent autosomal recessive disorder characterized by gradual weakening of the skeletal and respiratory muscles, resulting in substantial impairment. The illness is a result of genetic abnormalities in the survival motor neuron ۱ (SMN۱) gene, which leads to a reduction in the SMN protein and subsequently causes the degeneration of lower motor neurons. Gene therapy is a method that has the potential to cure or prevent uncommon monogenic illnesses by substituting a defective gene with a functional one. Gene therapy is particularly suitable for monogenic illnesses since it has the ability to correct abnormalities in a single gene. Currently, Nusinersen, risdiplam, and onasemnogene abeparvovec are the only officially sanctioned treatments for SMA that have the ability to influence the course of the illness. The purpose of this analysis is to examine and analyze their mechanisms of action, impacts, and potential safety issues. Nusinersen and risdiplam function by altering the SMN۲ gene product, whereas onasemnogene abeparvovec operates by introducing copies of the SMN۱ gene into cells. In this article, we briefly describe the pathogenesis and treatment strate, gies of SMA.

کلیدواژه ها:

Spinal muscular atrophy ، Gene therapy ، Nusinersen ، Zolgensma