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Last Updated:  Friday, 14 March, 2003, 15:16 GMT
DNA 'sticky-tape' treatment
DNA
The scientists looked at DNA
Scientists believe they can stop certain genetic diseases by correcting DNA mutations.

The UK researchers say they can reverse key gene mutations using a kind of genetic "sticky-tape".

Many diseases are caused by mutations in just one or two of the 3.2 billion base pairs of DNA which make up the human genome.

One such disease is spinal muscular atrophy (SMA), an often fatal spinal cord disease which affects the muscles involved in crawling, walking, head and neck control and swallowing.

It affects one in 10,000 births, and about one in 50 people carry the defective version of the gene which causes the condition.

Genetic information

Researchers from Imperial College London, the University of Leicester, and Hammersmith Hospital focussed on a part of the process that turns genes into proteins, called splicing, which occurs in all cells at all stages of life, including their development.

The technique we have developed allows us to correct genetic mutations
Professor Franceso Muntoni, Imperial College London
The first stage of the process is to turn genes into RNA (ribonucleic acid).

Key information in genes is broken up into small "islands" which have to be connected to turn them into proteins.

But there is also a lot of useless information in genes, which has to be removed.

If the useless genetic information gets mixed up with the essential information, it can cause mutations and therefore disease.

In their research, the UK scientists were able to stick the right pieces of genetic information back together using oligos, short pieces of RNA "sticky tape".

The oligos were modified to make them more effective in ensuring splicing works.

The team tested the procedure on cells from a patient who had spinal muscular atrophy.

Adding the oligos meant most of the protein required for the splicing process could be produced, so cells could develop normally.

Cancer hope

Professor Franceso Muntoni, from Imperial College London and the Hammersmith Hospital said: "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."

Professor Ian Eperon, from the University of Leicester, said: "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."

The research is to be published in the Proceedings of the National Academy of Science.


SEE ALSO:
Watching genes in action
23 Jan 03 |  Health
Spinal paralysis 'breakthrough'
06 Nov 00 |  Health


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