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 email@example.com.
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!
Resolving the mystery of preeclampsia
21.10.2016 | Universitätsklinikum Magdeburg
New potential cancer treatment using microwaves to target deep tumors
12.10.2016 | University of Texas at Arlington
Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.
"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...
In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.
A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...
By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.
"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...
COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.
In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...
'Ferroelectric' materials can switch between different states of electrical polarization in response to an external electric field. This flexibility means they show promise for many applications, for example in electronic devices and computer memory. Current ferroelectric materials are highly valued for their thermal and chemical stability and rapid electro-mechanical responses, but creating a material that is scalable down to the tiny sizes needed for technologies like silicon-based semiconductors (Si-based CMOS) has proven challenging.
Now, Hiroshi Funakubo and co-workers at the Tokyo Institute of Technology, in collaboration with researchers across Japan, have conducted experiments to...
14.10.2016 | Event News
14.10.2016 | Event News
12.10.2016 | Event News
21.10.2016 | Health and Medicine
21.10.2016 | Information Technology
21.10.2016 | Materials Sciences