Boffins’ gene therapy breakthrough
Published: March 13, 2005
A new gene therapy technique could offer hope for people with ALS, the devastating motor neuron disease suffered by leading physicist Professor Stephen Hawking.
In a groundbreaking study scientists both silenced the defective gene that causes inherited amytrophic lateral sclerosis, (ALS), and installed a working version.
Mice with ALS which received the Swiss treatment experienced a significant improvement in their condition, it has been revealed.
Both the onset and rate of progression of the disease were substantially reduced.
Dr Patrick Aebischer, president of the Ecole Polytechnique Federale de Lausanne (EPFL), who co-led the research: “This is the first proof of principle in the human form of a disease of the nervous system in which you can silence the gene and at the same time produce another normal form of the protein.”
ALS is a progressive neurological disease that attacks the motor nerves controlling the muscles.
Victims retain all their mental faculties but experience gradual paralysis and eventually lose all motor function, becoming unable to speak, swallow or breathe.
Also known as Lou Gehrig’s disease after the baseball player who succumbed to it, the fatal disease has no cure and is not well understood.
Between 5% and 10% of ALS cases are inherited. Of these, 20% have been linked to mutations in a gene called SOD1 which produces the enzyme superoxide dismutase.
They are known as “toxic gain-of-function” mutations because the protein produced by the gene has an additional function that makes it harmful.
The Swiss scientists used a technique called RNA interference to silence defective SOD1 genes in genetically engineered mice with ALS.
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