Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Molecular medical research points to treatment of spinal muscular atrophy

06.11.2007
SMA is the second most prevalent genetic cause of infant death in the UK, after cystic fibrosis.

Studies show that between 1:50 and 1:34 of the population are carriers of the disease, and that it affects in the region of 1:10,000 children born in the UK. In the USA, 1:40 are carriers and 1:6,000 children are affected by the disease.

SMA is a neuromuscular condition causing weakness of the muscles. The gene for SMA is passed from parents to their children, but SMA can only affect a child if both parents carry a defective gene. Genes come in pairs, one from each parent. If a person has one normal and one affected gene they do not show the symptoms of SMA but are carriers. If both genes are affected they will have SMA.

Researchers at the Peninsula Medical School in Exeter, UK, have carried out studies into one of the two survival motor neuron (SMN) genes that set suffers from SMA apart from the rest of the population. In 98% of SMA sufferers, the SMN protein is only produced from one of these genes. The resulting fall in SMN protein levels is what causes SMA to develop.

The remaining two per cent of SMA sufferers produce normal levels of SMN protein, but the protein is altered so that it is no longer capable of performing its normal functions within the body. One of the main reasons for this is that these disease-causing alterations in the SMN protein prevent it from localising to the correct places in the body¡¯s cells. By looking at why mutations occur and what they do to divert protein away from the cellular areas where it is required, the Peninsula Medical School team may be able to identify compounds that alter the protein so that it is directed correctly ¨C effectively producing a treatment for the disease.

The research could also have potential bearings on other treatments, such as gene therapy.

The paper highlighting this research is the first to be published by this particular research team, and it has made the front cover of ¡°Human Molecular Genetics¡± ¨C a remarkable achievement for a first time publication.

The research team is developing a number of other research projects in this area, as well as looking at non-invasive ways of carrying out tests in clinical trials ¨C such as identifying SMA from saliva rather than blood samples.

The team is headed up by Dr. Philip Young, researcher and lecturer in biomedical science at the Peninsula Medical School. He said: ¡°Although our results have no initial translational impact on patients, they highlight why alterations in the SMN protein could prevent it from functioning properly. This is important because if we can help the altered protein function we could potentially identify a novel therapeutic approach.¡±

Richard Green, chief executive of The Jennifer Trust for Spinal Muscular Atrophy, added: ¡°Every advance in the scientific understanding of this devastating condition brings us another step closer to an effective treatment. New discoveries lead to new hope for the many thousands of families affected by SMA. We are very pleased to hear this news.¡±

For more information about SMA research at the Peninsula Medical School, or if SMA affects you and your family and you would like to get involved, please contact Phil Young on 01392 262939 or email him at philip.young@pms.ac.uk.

Case Study

Twins Bethany and Ceri Astill, 11, from Torpoint, Plymouth, UK, were diagnosed with type 2 SMA around the time of their second birthday.

Mum Sian said: ¡°We noticed that they were slow in trying to walk, and were intent on using their own unique ways of getting around. They were given the ¡®lazy label¡¯ for a while, but a little after their first birthday our GP referred them to Derriford where they had a number of tests. A genetic blood test a few months later confirmed that they had type 2 SMA.¡±

The girls are determined to be as much the same as other youngsters of their age, and they have always attended mainstream schools with the support of one-to-one carers. They have just started at Torpoint Community College, and they have a passion for music and drama.

Said Sian: ¡°Although they have the daily struggle of getting around and doing everyday things that you or I take for granted, they are remarkably positive and outgoing ¨C so much so that we are often put in contact with families with recently diagnosed children to offer support and to explain how the condition can affect daily life.¡±

Despite both undergoing spinal surgery in late June, the girls remain upbeat and are not adverse to turning down challenges from the most well-known of challenge makers ¨C Anika Rice. Earlier this year they took part in a Challenge Anika programme that was broadcast in early June, to raise money for the children¡¯s hospice movement. The girls and Sian were flown to London on Mohammed Al-Faed¡¯s private helicopter, and even recorded a track for a charity album with Duncan James from Blue.

Said Sian: ¡°There¡¯s really no stopping them, and we are so proud of the way they go about dealing with their condition.¡±

But what does the family think about the research breakthrough discovered at the Peninsula Medical School? ¡°Even if it might not be beneficial to our girls, if it does anything to help anybody else in our situation it has to be brilliant.

Andrew Gould | EurekAlert!
Further information:
http://www.pms.ac.uk/pms/

More articles from Health and Medicine:

nachricht Malaria Already Endemic in the Mediterranean by the Roman Period
27.07.2017 | Universität Zürich

nachricht Serious children’s infections also spreading in Switzerland
26.07.2017 | Universitätsspital Bern

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Physicists Design Ultrafocused Pulses

Physicists working with researcher Oriol Romero-Isart devised a new simple scheme to theoretically generate arbitrarily short and focused electromagnetic fields. This new tool could be used for precise sensing and in microscopy.

Microwaves, heat radiation, light and X-radiation are examples for electromagnetic waves. Many applications require to focus the electromagnetic fields to...

Im Focus: Carbon Nanotubes Turn Electrical Current into Light-emitting Quasi-particles

Strong light-matter coupling in these semiconducting tubes may hold the key to electrically pumped lasers

Light-matter quasi-particles can be generated electrically in semiconducting carbon nanotubes. Material scientists and physicists from Heidelberg University...

Im Focus: Flexible proximity sensor creates smart surfaces

Fraunhofer IPA has developed a proximity sensor made from silicone and carbon nanotubes (CNT) which detects objects and determines their position. The materials and printing process used mean that the sensor is extremely flexible, economical and can be used for large surfaces. Industry and research partners can use and further develop this innovation straight away.

At first glance, the proximity sensor appears to be nothing special: a thin, elastic layer of silicone onto which black square surfaces are printed, but these...

Im Focus: 3-D scanning with water

3-D shape acquisition using water displacement as the shape sensor for the reconstruction of complex objects

A global team of computer scientists and engineers have developed an innovative technique that more completely reconstructs challenging 3D objects. An ancient...

Im Focus: Manipulating Electron Spins Without Loss of Information

Physicists have developed a new technique that uses electrical voltages to control the electron spin on a chip. The newly-developed method provides protection from spin decay, meaning that the contained information can be maintained and transmitted over comparatively large distances, as has been demonstrated by a team from the University of Basel’s Department of Physics and the Swiss Nanoscience Institute. The results have been published in Physical Review X.

For several years, researchers have been trying to use the spin of an electron to store and transmit information. The spin of each electron is always coupled...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Clash of Realities 2017: Registration now open. International Conference at TH Köln

26.07.2017 | Event News

Closing the Sustainability Circle: Protection of Food with Biobased Materials

21.07.2017 | Event News

»We are bringing Additive Manufacturing to SMEs«

19.07.2017 | Event News

 
Latest News

Programming cells with computer-like logic

27.07.2017 | Life Sciences

Identified the component that allows a lethal bacteria to spread resistance to antibiotics

27.07.2017 | Life Sciences

Malaria Already Endemic in the Mediterranean by the Roman Period

27.07.2017 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>