Molecular Mechanisms Causing SMA Pathology

Disorders in genes and chromosomes lead to various genetic diseases. These diseases can be inherited from parents to future generations or arise from mutations that form spontaneously in genetic material. Researching genetic diseases is extremely important because it helps to understand the mechanisms that cause the disease and to provide effective interventions. As a result, diagnostic methods are being improved and targeted treatments and preventive measures are being developed. One of the crucial genetic diseases is Spinal Muscular Atrophy (SMA). SMA has a significant impact on quality of life, causing severe physical disabilities and, in some cases, life-threatening complications. The study of SMA also serves as a model for understanding other neurodegenerative and genetic diseases. Keywords: spinal muscular atrophy, SMN1 and SMN2 genes, SMN protein, splicing mechanism, alternative splicing