Progeria affects one in four million people worldwide US scientists have identified a genetic clue which could point the way to the treatment of Progeria, a rare premature ageing disease.
National Cancer Institute researchers were able to correct inaccurate genetic information in the cells taken from people with the condition.
Writing in Nature Medicine, they say the discovery could aid the development of gene therapy for the condition.
But the research will not help halt the natural ageing process.
It’s definitely not a method for increasing the lifespan of the general population, says Dr Ian Kill, Brunel University
Hutchinson-Gilford Progeria (HGP) affects about one in four million people.
The average life expectancy for someone with the condition is about 13 to 14 years.
Symptoms include baldness, aged-looking skin, dwarfism and a small face and jaw relative to head size.
People with Progeria die from diseases that old people suffer, primarily heart disease and stroke.
Genetic ’gobbledegook’ .
Scientists already knew that the majority of cases of the condition were linked to a mutation of a gene called lamin A, which controls the production of a protein.
The resultant faulty protein may then affect the expression of other genes.
All genes are made up of exons - key "sentences" of genetic information, and introns - genetic gobbledegook.
Genes are edited together to join up all the important pieces of information and remove all the nonsense, making up a coherent gene.
The mutation in the lamin A gene causes the editing to occur in the wrong place, cutting exons short, so crucial information is missed off.
The US team, led by Dr Tom Misteli, found it was possible to use morpholino oligonucleatides, synthetic pieces of "molecular sellotape", to correct this editing error, and ensure all the information is included.
This meant the genes behave in the way that they should do.
’Normal lifespan’ .
Dr Ian Kill, a senior lecturer in biologist from Brunel University, who has also carried out research into Progeria, told the BBC News Website: "It’s a really fundamental achievement which points to a very interesting route of treatment for this disease.
"Of all the gene therapy techniques that are around, this looks likely to be a particularly successful one."
He said the gene therapy could one day enable people with HGP to have a normal lifespan.
But Dr Kill said the study findings would have no implications for preventing the normal human ageing process.
"Since normal individuals don’t have this mutation, the therapy wouldn’t have any effect. It’s definitely not a method for increasing the lifespan of the general population."
He added: "However, we are interested in this disease because it does inform us about the normal ageing process.
"It tells us there is a cellular basis to ageing. If cells are dysfunctional, and so you age faster, that probably happens in the normal ageing process, but perhaps it happens more slowly, or in a different way." |
