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

June 28, 2012

(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.”

Explore further: USC scientist targets genetic cause of infant mortality

Related Stories

USC scientist targets genetic cause of infant mortality

October 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 cause of infant ...

Researchers find synthetic RNA lessens severity of fatal disease

November 21, 2011
A team of University of Missouri researchers have found that targeting a synthetic molecule to a specific gene could help the severity of the disease Spinal Muscular Atrophy (SMA) – the leading genetic cause of infantile ...

Recommended for you

Two Group A Streptococcus genes linked to 'flesh-eating' bacterial infections

September 22, 2017
Group A Streptococcus bacteria cause a variety of illnesses that range from mild nuisances like strep throat to life-threatening conditions including pneumonia, toxic shock syndrome and the flesh-eating disease formally known ...

Ecosystem approach makes urinary tract infection more treatable

September 22, 2017
The biological term 'ecosystem' is not usually associated with urinary tract infections, but this should change according to Wageningen scientists.

Residents: Frontline defenders against antibiotic resistance?

September 22, 2017
Antibiotic resistance continues to grow around the world, with sometimes disastrous results. Some strains of bacteria no longer respond to any currently available antibiotic, making death by infections that were once easily ...

Superbug's spread to Vietnam threatens malaria control

September 21, 2017
A highly drug resistant malaria 'superbug' from western Cambodia is now present in southern Vietnam, leading to alarming failure rates for dihydroartemisinin (DHA)-piperaquine—Vietnam's national first-line malaria treatment, ...

Investigators may unlock mystery of how staph cells dodge the body's immune system

September 21, 2017
For years, medical investigators have tried and failed to develop vaccines for a type of staph bacteria associated with the deadly superbug MRSA. But a new study by Cedars-Sinai investigators shows how staph cells evade the ...

Individualized diets for irritable bowel syndrome better than placebo

September 21, 2017
Patients with irritable bowel syndrome who follow individualized diets based on food sensitivity testing experience fewer symptoms, say Yale researchers. Their study is among the first to provide scientific evidence for this ...

0 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.