Animal models of spinal muscular atrophy

U. R. Monani
2000 Human Molecular Genetics  
Proximal spinal muscular atrophy (SMA) is the second most common autosomal recessive inherited disorder in humans. It is the most common genetic cause of infant mortality. As yet, there is no cure for this neuromuscular disorder which affects the lower motor neurons and proximal muscles of the limbs and trunk. In the last decade, significant advances have been made in understanding this disease, from linkage analysis to isolating the defective gene and identifying its protein product. This
more » ... w summarizes the most recent advance in SMA research: the development of animal models of the disease, in particular mouse models of SMA. The SMA mice that we describe here present with symptoms similar to those seen in SMA patients. They promise to further the understanding of the molecular basis of this disease and demonstrate the feasibility of using the intact SMN2 gene, found in all SMA patients, as a means of treating this disorder.
doi:10.1093/hmg/9.16.2451 pmid:11005801 fatcat:72tryo4ydbajnluhqaaur5ht3e