Two new studies from Karolinska Institutet suggest that somatic mutations accumulating in muscle and vascular tissues may contribute to age-related decline. Published in Nature Aging, the work highlights how non-hereditary genetic changes can impair tissue function, reduce regenerative capacity, and accelerate vascular damage.
“We’ve discovered that mutations that accumulate in muscle cells and blood vessels can affect the tissue’s function and ability to regenerate – i.e., to replace damaged tissue with new healthy cells – an ability that also declines with age,” said Maria Eriksson, professor at Karolinska Institutet.
The first study focused on blood vessels and built on Eriksson’s earlier discovery of the genetic cause of progeria. The team detected the same pathogenic mutation and its protein product, progerin, in the vascular walls of some patients with chronic kidney disease. “A somatic mutation has occurred in the patients’ vascular walls, and we suspect that it’s related to the vascular damage that often accompanies kidney disease,” said first author Gwladys Revêchon.
Mouse experiments showed that progerin-expressing cells can expand and cluster along vascular walls, potentially promoting tissue damage and premature vascular aging. Access to a large biobank of patient material, established by nephrologist Peter Stenvinkel, was essential to the study. “I’m very happy that we can now learn more about why people with kidney disease so easily become vascular compromised,” said Stenvinkel.
The second study examined how somatic mutations in muscle tissue affect strength. Using a mouse model, Eriksson’s group found that accumulation of mutations impaired regeneration, reduced muscle mass, and lowered grip strength.
Together, the studies provide evidence that somatic mutations can weaken muscles and accelerate vascular decline, offering new perspectives on biomarkers and potential treatment strategies for age-related diseases.
Publication Details
Vrtačnik, P., Merino, L.G., Subhash, S. et al. Induced somatic mutation accumulation during skeletal muscle regeneration reduces muscle strength. Nat Aging (2025). https://doi.org/10.1038/s43587-025-00941-y
“We’ve discovered that mutations that accumulate in muscle cells and blood vessels can affect the tissue’s function and ability to regenerate – i.e., to replace damaged tissue with new healthy cells – an ability that also declines with age,” said Maria Eriksson, professor at Karolinska Institutet.
The first study focused on blood vessels and built on Eriksson’s earlier discovery of the genetic cause of progeria. The team detected the same pathogenic mutation and its protein product, progerin, in the vascular walls of some patients with chronic kidney disease. “A somatic mutation has occurred in the patients’ vascular walls, and we suspect that it’s related to the vascular damage that often accompanies kidney disease,” said first author Gwladys Revêchon.
Mouse experiments showed that progerin-expressing cells can expand and cluster along vascular walls, potentially promoting tissue damage and premature vascular aging. Access to a large biobank of patient material, established by nephrologist Peter Stenvinkel, was essential to the study. “I’m very happy that we can now learn more about why people with kidney disease so easily become vascular compromised,” said Stenvinkel.
The second study examined how somatic mutations in muscle tissue affect strength. Using a mouse model, Eriksson’s group found that accumulation of mutations impaired regeneration, reduced muscle mass, and lowered grip strength.
Together, the studies provide evidence that somatic mutations can weaken muscles and accelerate vascular decline, offering new perspectives on biomarkers and potential treatment strategies for age-related diseases.
Publication Details
Vrtačnik, P., Merino, L.G., Subhash, S. et al. Induced somatic mutation accumulation during skeletal muscle regeneration reduces muscle strength. Nat Aging (2025). https://doi.org/10.1038/s43587-025-00941-y