The Human centromeric Survival Motor Neuron (SMN2) gene rescues embryonic lethality in Smn-/- mice and results in a mouse with Spinal Muscular Atrophy
Project management at the University of Würzburg:
Spinal Muscular Atrophy is caused by deletion of one of two smn genes which are located on human chromosome 5. The human smn2 gene which is preserved in Spinal Muscular Atrophy, gives ?raise to a truncated protein, but also, to a low level, to full length smn gene product. We have investigated the effect of smn gene dose reduction in smn heterocygous mice and in mice in which the human smn2 gene was expressed as a transgene on a smn-/- background. Those mouse models revealed postnatal loss of motoneurons and thus resemble the human disease. Our data also indicate that high expression of smn2 can prevent disease, by this way pointing the way to new therapeutic strategies for Spinal Muscular Atrophy.
Projekt period: from 01.1996 to 12.2000
DFG ( To 61/8-3 und 61/8-4 ) ,Granting date: 07.07.1997
DFG To 61/-1