exon 7

Research studies in mice using two markedly different strategies both resulted in increased life span

posted on March 14, 2012 - 9:09am
Below are highlights of two recent studies in spinal muscular atrophy (SMA), a disease in which the nerve cells that control muscles (motor neurons) in the spinal cord die, causing progressive weakness in the voluntary muscles.

Researchers have identified a compound that helps cells produce more full-length SMN protein from the backup SMN2 gene.

posted on November 6, 2009 - 1:19pm
Scientists have identified a chemical cousin of the commonly used antibiotic tetracycline that has the potential to be refined and modified into a therapy for spinal muscular atrophy (SMA). PTK-SMA1 works by correcting an error in a cellular process called RNA splicing, and leads to increased production of a critical protein that is deficient in this disease.

Scientists use a small molecule to coax synthesis of a needed protein in SMA-affected cells

posted on July 31, 2009 - 10:25am
Scientists at three U.S. institutions have used a very small synthetic molecule to correct the genetic defect in cells taken from a person with spinal muscular atrophy (SMA), a disease in which muscle-controlling nerve cells in the spinal cord are lost.