John Kissel

A variant in the SMN2 gene leads to more full-length SMN protein and better function

posted on September 29, 2009 - 1:34pm
Scientists have uncovered a variant (mutation) in the SMN2 gene that leads to production of more full-length SMN protein molecules and a milder version of spinal muscular atrophy (SMA). The finding, a naturally occurring point mutation (a single letter change in the DNA code) in this gene, has immediate implications for genetic testing and possible long-term implications for therapy development.

 A variant in the SMN2 gene leads to more full-length SMN protein and better function

posted on September 29, 2009 - 10:46am
Scientists have uncovered a variant (mutation) in the SMN2 gene that leads to production of more full-length SMN protein molecules and a milder version of spinal muscular atrophy (SMA). The finding, a naturally occurring point mutation (a single letter change in the DNA code) in this gene, has immediate implications for genetic testing and possible long-term implications for therapy development.

An overview of SMA and current research, including video interviews with researchers

posted on April 1, 2009 - 10:42am
QUEST Vol. 16, No. 2
SMA is caused by a deficiency of a motor neuron protein called SMN (survival of motor neurons). This deficiency results when there is a faulty gene on chromosome 5. The disease causes a loss of nerve cells (motor neurons) in the spinal cord. One in every 40 people carries the gene flaw that causes SMA. Both parents must carry the gene flaw for SMA to be passed on; each of their children has a 25...
posted on September 1, 2007 - 11:06am
QUEST Vol. 14, No. 5
Featured in this issue: News about clinical trials in Charcot-Marie-Tooth disease, Duchenne muscular dystrophy, Pompe disease and myotonic muscular dystrophy type 1