Scientists from National Cancer Institute Maryland USA had found out a gene that is related to the disease of premature ageing called Hutchinson-Gilford progeria syndrome.
The disease is caused by a point mutation in the gene called LMNA. This gene is one of the major genes that lead to the physiology of mammals and reside in mammalian cell nucleus. Fibroblasts from the individual with the disease have severe abnormalities in the nuclear envelope structure.
Scientists have not only identified the gene responsible for the progeria syndrome, but they have developed a process to reverse the symptoms. The process will eliminate mutant LMNA mRNA and lamin A protein using splicing correction to the activated cryptic splice site. On doing this, the HGPS fibroblasts become like normal cell nuclei. This helps in the proper _expression of the several deregulated genes that cause the disease.
The results show that it is possible to correct the genetic structure of the people suffering from premature ageing phenotype that characterizes patients with Hutchinson-Gilford progeria syndrome.
The study is published in the March issue of Nature Medicine.
Reference: Nature Medicine, March 2005