New information about the causes of 'floppy baby' syndrome discovered

(Medical Xpress) -- New information on the potential cause of Spinal Muscular Atrophy (SMA), known as “floppy baby syndrome”, has been discovered by cell biology experts at the University of St Andrews.

A team lead by Dr Judith Sleeman, lecturer in Cell and Development Biology, has uncovered some new information involving the way SMA stops genes from working properly.

In laboratory models of SMA, researchers at the University of St Andrews have uncovered differences in the movement of key parts of a molecular ‘machine’ called the spliceosome, vital for the way genes work.

This “machine” helps to decode the DNA molecules that carry genetic instructions and removes sections which are not needed. This process goes wrong in conditions such as SMA.

The discovery of these differences in molecular movements may help to explain what goes wrong in to cause SMA.

(SMA), ‘floppy baby syndrome’, is the leading genetic cause of death in children.

It is a type of motor neuron disease, affecting 1 in 6,000 births. The most severely affected children die before the age of two.

The gene responsible for SMA is known, but it is still not clear how problems with this gene damage the cells of the body and why motor neurons, responsible for sending messages to the muscles, are particularly sensitive. The more researchers can find out about exactly how cells are damaged in SMA, the better the chance of finding treatments.

The information stored in the genes of every cell needs to be interpreted before it can be used by the cell. This is carried out by complex molecular ‘machines’. These are extremely dynamic and need to work quickly and accurately.

The research will be published in the Journal of Cell Science.

Dr Sleeman 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.”

Related Stories

USC scientist targets genetic cause of infant mortality

Oct 13, 2011

The disease is heartbreaking. It turns babies into ragdolls and extinguishes lives just as they are getting started. But one USC Dornsife scientist is working to unravel the mystery behind the leading genetic ...

Rare window on spinal muscular atrophy genetics

Apr 07, 2009

Caused by a mutation of the SMN gene, spinal muscular atrophy (SMA) is an infantile and juvenile neurodegenerative disorder where motor neuron loss causes progressive paralysis. A new study published in the open access journal ...

Researchers gain new insights on spinal muscular atrophy

May 29, 2008

Researchers from the University of Pennsylvania School of Medicine discovered that the effect of a protein deficiency, which is the basis of the neuromuscular disease spinal muscular atrophy (SMA), is not restricted to motor ...

Toward an effective treatment for a major hereditary disease

Oct 13, 2008

Scientists are reporting a key advance toward developing the first effective drug treatment for spinal muscular atrophy (SMA), a genetic disease that involves motor neuron loss and occurs in 1 out of every 6,000 births. SMA ...

Recommended for you

Sierra Leone to miss target for beating Ebola: UN

1 minute ago

The United Nations' Ebola response mission admitted Thursday it was going to miss its target for beating the deadly epidemic in Sierra Leone due to a chronic shortage of hospital beds.

Global Ebola toll rises to 5,689: WHO

4 hours ago

The World Health Organization said Thursday that the global death toll from the Ebola virus had increased to 5,689 out of a total of 15,935 cases of infection, mainly in western Africa.

Ebola vaccine promising in first human trials

15 hours ago

Researchers say they're a step closer to developing an Ebola vaccine, with a Phase 1 trial showing promising results, but it will be months at the earliest before it can be used in the field.

User comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.