Spinal Muscular Atrophy Recreated In The Lab
U.S. scientists have reported in the journal Nature a major advance in studying devastating nerve disease. The advance uses skin cells from a child with spinal muscular atrophy (SMA). SMA is a genetic disease that attacks motor neurons in the spinal cord.
With this advance, the scientists from the University of Wisconsin-Madison and the University of Missouri-Columbia have created the first human model for studying a devastating nerve disease. This will allow them to watch how the disease develops and could help researchers find a way to treat it.
Using child's skin cells, the researchers grew batches of nerve cells with the same genetic defects. This was done by first turning the cells into stem cells and then into the nerve cells.
The scientists did the same with cells from the child's healthy mother. After two months, the motor neurons from the child's cells began to die, while the mother's neurons kept developing normally.
"Now you can replay the human disease over and over in the dish and ask what are the very early steps that began the process" said Clive Svendsen of the University of Wisconsin-Madison.
Spinal muscular atrophy is the most common cause of childhood death caused by a genetic mutation. It is caused by a deficiency of a protein called spinal muscular atrophy. Without the spinal muscular atrophy protein motor neurons die. Motor neurons are important for muscle function.
Infants with the most severe form of spinal muscular atrophy develop normally for the first six months of life. They then gradually develop muscle weakness and loss of motor control. In the end, the child will be completely paralyzed. Children with spinal muscular atrophy typically die around 2 years of age.