Role of anti-apoptotic Bcl-2 protein in spinal muscular atrophy
Apoptosis is an essential physiological cell death for selective elimination of cells, involved in a variety of biological events including morphogenesis, cell turn over and removal of harmful cells. Disruption of the regulation of apoptosis may result in various diseases, including cancer and autoimmune diseases both associated with inhibition of apoptosis and various degenerative disorders associated with enhancement of apoptosis, and therefore, apoptosis is an improtant theme in the medical field. Apoptosis is driven by a family of cysteine proteases, called caspases and regulated by a Bcl-2 family of proteins, which is the best characterized apoptosis regulators. The Bcl-2 family consists of anti-apoptotic and pro-apoptotic members, and some members are implicated in cancer and nuronal diseases.
Here, I overview the mechanism of how Bcl-2 family proteins regulate cell death, and how they are implicated in human diseases, particularly focusing on role of Bcl-2 in spinal muscular atropy.
KeywordsSpinal Muscular Atrophy Spinal Muscular Atrophy Patient Survival Motor Neuron Gene Facial Motor Neuron Neuronal Apoptosis Inhibitory Protein
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