survival of motor neurons

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.

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