The premature ageing disorder Hutchinson-Gilford Progeria Syndrome (HGPS, or progeria) is one of the rarest human diseases. Children suffering from progeria appear healthy, but by the age of two years, they look as if they have become old too fast. There are about one in 18 million children who go through this premature ageing and death in adolescence from complications of cardiovascular disease.
Researchers at Sweden's Karolinska Institute and IFOM, the FIRC Institute of Molecular Oncology in Italy conducted an experiment on mice and human cells where they identified how antisense oligonucleotide therapies could be used as a new possible treatment option for the disease. The results of the study are published in the journal Nature Communications.
Essentially progeria is a genetic condition that is linked to progerin, a defect form of the lamin A protein found in the nucleus of the cell. Maria Eriksson, a co-author in the current study identified this mutation in 2003 which inhibits cell division.
Considerably till now, dozen of remedial experiments have taken place to cure progeria but when it comes to clinical trials conducted in patients with progeria, the results have been unsatisfying.
Maria Eriksson, professor at the Department of Biosciences and Nutrition at Karolinska Institutet said, "We have seen positive effects in the treatment of mice, but in humans, the effect has been too small. We, therefore, need to rethink and find new ways to treat the disease."
The researchers in the study used cell samples from children with progeria to show an impaired function in the telomeres at the far end of the chromosomes and the accumulation of so-called telomeric non-coding RNA.
By adding antisense oligonucleotides, a treatment used to inactivate harmful genes, the researchers were able to reduce the level of telomeric non-coding RNA (Ribonucleic acid). This operation advanced to a more normalised cell division, which would likely improve patients' conditions and extend their lifespan.