In a study published in the journal Nature Communications, a team of Swedish and Italian scientists revealed a new possible treatment option for fighting progeria.
Researchers from Sweden's Karolinska Institute and the FIRC Institute of Molecular Oncology in Italy specifically focused on how antisense oligonucleotide therapies could be used in fighting the very rare genetic fatal disease which affects about one in 18 million children, leading to premature aging and death in adolescence from complications of cardiovascular disease.
Professor Maria Eriksson of Karolinska Institute said that the scientists “have seen positive effects in the treatment of mice, but in humans the effect has been too small”, which is why they “need to rethink and find new ways to treat the disease”.
It was Eriksson who identified in 2003 the mutation which inhibits cell division related to progeria, also known as Hutchinson-Gilford progeria syndrome, which is linked to progerin, a defect form of the lamin A protein found in the cell nucleus.
She was echoed by Agustin Sola-Carvajal, former postdoc in Eriksson's research group and co-author of the study, who explained that “in a gene altered mouse model of progeria treated in the same way, we saw a significant increase in both the maximum life expectancy, up 44 percent, and the average life expectancy, up 24 percent”.
He touted the results as “very promising”, adding that more research is needed to assess “how the relatively low levels of progerin seen in healthy individuals contribute to ageing and age-related disease”.
“It is interesting to note that antisense oligonucleotides are now included as drugs in advanced clinical trials, some of which are already approved by the FDA [ Food and Drug Administration] in the US”, Sola-Carvajal concluded.
The study comes after more than a dozen treatments of progeria have been tested over the past few years, with no tangible results related to clinical trials conducted in patients suffering from the disease.
The new treatment pertains to researchers managing to reduce the level of telomeric non-coding ribonucleic acid (RNA) by adding antisense oligonucleotides to inactivate harmful genes.