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Low oxygen levels may decrease life-saving protein in spinal muscular atrophy
Date:8/21/2012

ecifically to decreases in oxygen. This gave us a clue that low levels of oxygen might influence how the SMN2 gene is spliced."

Upon examining mouse models of severe SMA exposed to low oxygen levels, Dr. Chandler's team found that SMN2 exon 7 skipping increased within skeletal muscles. When the mice were treated with higher oxygen levels, exon 7 was included more often and the mice showed signs of improved motor function.

"These data correspond with the improvements seen in SMA patients who undergo oxygen treatment," says Dr. Chandler. "Our findings suggest that respiratory assistance is beneficial in part because it helps prevent periods of low oxygenation that would otherwise increase SMN2 exon 7 skipping and reduce SMN levels."

Dr. Chandler says daytime indicators that reveal when an SMA patient is experiencing low oxygen levels during sleep may serve as a measure to include SMA patients in earlier respiratory support and therefore improve quality of life or survival.


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Contact: Erin Pope
Erin.Pope@NationwideChildrens.org
614-355-0495
Nationwide Children's Hospital
Source:Eurekalert

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