Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Scientists discover possible new treatment for genetic diseases

17.03.2003


Scientists from Imperial College London, the University of Leicester, and Hammersmith Hospital have found a way to stop certain types of genetic diseases from occurring by modifying the way DNA is turned into proteins.



The research published in this month’s Proceedings of the National Academy of Science shows how the researchers have been able to restore proper expression of defective genes, and that this might potentially have a positive effect in genetic diseases such as spinal muscular atrophy.

The research was carried out at Imperial College London and the University of Leicester as collaboration between Professor Francesco Muntoni and Professor Ian Eperon.


Professor Francesco Muntoni, from Imperial College London and the Hammersmith Hospital comments: "Many genetic diseases are caused by the mutation of just one or two of the 3.2 billion base pairs of DNA which comprise our genome. The technique we have developed with our colleagues at the University of Leicester allows us to correct genetic mutations which result in abnormal splicing, as it is the case for spinal muscular atrophy."

Splicing is part of the process by which genes are converted into proteins. Large chunks of useless and meaningless sequence have accumulated in the genes of higher organisations, and the mutation of just one or two of the 3.2 billion base pairs which make up our genome can interfere with splicing.

To make proteins genes first need to be processed into RNA (ribonucleic acid). The information in the genes is broken up into islands of information called exons, which need to be stitched together, while the meaningless sequences are removed. If the sequence of an exon is changed, splicing can be disrupted, causing genetic mutations.

The researchers were able to stick the right sequences back into the exon by using short pieces of RNA (oligos), which stick to the exon of interest and had been modified to recruit signals that influence splicing. Using this novel strategy the splicing reaction can be manipulated.

This treatment was tested on cells from a patient suffering from spinal muscular atrophy. By putting these oligos into the cells, much of the protein required for the splicing process could be produced, allowing normal development of the cells.

Professor Ian Eperon from the University of Leicester adds: "Although oligos have previously been developed to block expression of genes, this research indicates that we can also use them to restore the proper expression of defective genes. As well as working in diseases with a clear genetic basis such as spinal muscular dystrophy, we are aware that other conditions such as inflammation or cancer involve changes in the splicing of normal genes and our method might allow us to reverse these and facilitate treatment of the illness."

Spinal muscular atrophy is a serious and common disease affecting 1 in 10,000 births, resulting in mortality in babies who have the more serious form. The disease is caused by a mutation in a gene called SMN1. About 1 in 50 people have the defective version of SMN1.

Even though everyone carries a second copy of the SMN1 gene, SMN2, this does not compensate for the problem as a difference in a single base pair from SMN1 in just one exon prevents proper splicing. This novel method, that could have broad applications also in other disease, offers new hope for individuals affected by spinal muscular atrophy.

Tony Stephenson | EurekAlert!
Further information:
http://www.le.ac.uk
http://www.imperial.ac.uk

More articles from Health and Medicine:

nachricht Building blocks for new medications: the University of Graz is seeking a technology partner
19.03.2019 | Karl-Franzens-Universität Graz

nachricht Scientists find new approach that shows promise for treating cystic fibrosis
14.03.2019 | NIH/National Heart, Lung and Blood Institute

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: Stellar cartography

The Potsdam Echelle Polarimetric and Spectroscopic Instrument (PEPSI) at the Large Binocular Telescope (LBT) in Arizona released its first image of the surface magnetic field of another star. In a paper in the European journal Astronomy & Astrophysics, the PEPSI team presents a Zeeman- Doppler-Image of the surface of the magnetically active star II Pegasi.

A special technique allows astronomers to resolve the surfaces of faraway stars. Those are otherwise only seen as point sources, even in the largest telescopes...

Im Focus: Heading towards a tsunami of light

Researchers at Chalmers University of Technology and the University of Gothenburg, Sweden, have proposed a way to create a completely new source of radiation. Ultra-intense light pulses consist of the motion of a single wave and can be described as a tsunami of light. The strong wave can be used to study interactions between matter and light in a unique way. Their research is now published in the scientific journal Physical Review Letters.

"This source of radiation lets us look at reality through a new angle - it is like twisting a mirror and discovering something completely different," says...

Im Focus: Revealing the secret of the vacuum for the first time

New research group at the University of Jena combines theory and experiment to demonstrate for the first time certain physical processes in a quantum vacuum

For most people, a vacuum is an empty space. Quantum physics, on the other hand, assumes that even in this lowest-energy state, particles and antiparticles...

Im Focus: Sussex scientists one step closer to a clock that could replace GPS and Galileo

Physicists in the EPic Lab at University of Sussex make crucial development in global race to develop a portable atomic clock

Scientists in the Emergent Photonics Lab (EPic Lab) at the University of Sussex have made a breakthrough to a crucial element of an atomic clock - devices...

Im Focus: Sensing shakes

A new way to sense earthquakes could help improve early warning systems

Every year earthquakes worldwide claim hundreds or even thousands of lives. Forewarning allows people to head for safety and a matter of seconds could spell...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

International Modelica Conference with 330 visitors from 21 countries at OTH Regensburg

11.03.2019 | Event News

Selection Completed: 580 Young Scientists from 88 Countries at the Lindau Nobel Laureate Meeting

01.03.2019 | Event News

LightMAT 2019 – 3rd International Conference on Light Materials – Science and Technology

28.02.2019 | Event News

 
Latest News

Levitating objects with light

19.03.2019 | Physics and Astronomy

New technique for in-cell distance determination

19.03.2019 | Life Sciences

Stellar cartography

19.03.2019 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>