engleski

The role of SMN and NAIP genes in spinal muscular atrophy: Comparison of cell death features with Alzheimer's disease

A gene termed survival motor neuron gene (SMN) has been identified as the determining gene of SMA. In addition, a neuronal apoptosis inhibitory protein (NAIP) gene located near the SMN gene at chromosome 5 has been found deleted in more severe clinical types of the disease. A contemporary review on the regulation, expression and role of these genes in the etiopathogenesis of spinal muscular atrophy, together with the description of available mouse models of the disease, were given. In addition, differences in immunocytochemical and electron-microscopical features and kinetics of cell death between SMA and Alzheimer's disease were discussed.

mouse model; NAIP gene; spinal muscular atrophy; SMN1 gene; SMN2 gene

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