Spinal muscular atrophy – molecular genetics in diagnosis and therapy

Spinal muscular atrophy is an autosomal recessive disorder characterized by lower alpha motor neuron degeneration. In most cases, the disease results from homozygous deletions involving exon 7 of the “survival of motor neuron” (SMN) gene at locus 5q13. The SMN2 gene is a copy of the SMN1 gene, which generates approximately 10%-15% of the correctly spliced transcript because the gene contains a single silent nucleotide transition in exon 7, leading to frequent skipping of this exon during RNA splicing. The mechanism is known as alternative splicing. Increase in the SMN levels has a marked impact in experimental models. This simple and practical method of transferring genes may have a potential for use in the treatment of motoneuron disease in children and adults.

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