SKIN cells taken from children with the premature ageing syndrome Hutchinson-Gilford progeria have been restored to normal. The work proves it is possible to compensate for the genetic defect that causes this cruel disease, but finding ways to do this in the entire body remains a big challenge.
Hutchinson-Gilford progeria is caused by a mutation in the gene coding for lamin A, an important structural protein in the cell nucleus. The mutation causes an extra chunk to be cut out of the RNA copy of the lamin A gene while it is being 鈥渆dited鈥� into the blueprint for making the protein. The result is an abnormal protein. Adding a copy of the non-mutated gene to cells does not help, as the abnormal lamins are still made.
Instead, Tom Misteli and Paola Scaffidi at the National Cancer Institute in Bethesda, Maryland, have created a molecular band-aid, in the form of a short piece of nucleic acid that binds to the faulty RNA and prevents the extra chunk being cut out. It reverses all the abnormalities seen in skin cells from patients, they report in Nature Medicine (). It is just 18 months since the genetic defect that causes HG progeria was discovered, Misteli says. 鈥淪o I find it quite amazing that we can now fix it in the cell.鈥�
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