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Information has been discovered that could help scientists explain the most common genetic cause of death in children.
Spinal muscular atrophy (SMA), also known as floppy baby syndrome, targets the body’s nerve cells (motor neurones), causing babies to have little or no control over their movements.
Cell biology experts at the University of St Andrews have looked at the way SMA stops genes from working properly.
The research team found differences in the movement of key parts of a molecular “machine” called the spliceosome which is vital to the way genes work. It helps to decode the DNA molecules that carry genetic instructions and removes sections which are not needed.
This decoding process goes wrong in conditions such as SMA.
Now the researchers hope the discovery of these differences in molecular movements may help explain what goes wrong in cells to cause the condition.
SMA is the leading genetic cause of death in children and affects one in 6,000 births, the research team says.
Dr Judith Sleeman, who led the research being published in the Journal of Cell Science, said: “The genetic defect that causes SMA has been known for nearly 20 years, but how this defect leads to the symptoms is still not understood.
“Problems with the splicing of messenger RNA, an essential step in decoding genes, have been seen in SMA. Our work explains how these problems might be caused.
“We hope that this will provide an important clue to help unravel how cells are damaged in SMA and, in time, contribute to the development of treatments for this devastating condition.”
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