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New Studies Tie Somatic Mutations to Muscle Weakness and Early Vascular Aging

Karolinska Institutet links a progeria-related vascular mutation in patients to functional decline demonstrated in a controlled mouse model.

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Overview

  • The latest Nature Aging paper, published August 20, shows that forcing mutation build-up during skeletal muscle regeneration in mice produces smaller muscle cells, lower muscle mass and reduced grip strength.
  • The companion Nature Aging study, published June 10, reports recurrent somatic expression of the progeria-associated protein progerin in the blood-vessel walls of some chronic kidney disease patients.
  • In mouse vascular experiments, progerin-producing cells proliferated and formed clusters that spread along vessel walls, a process the authors say can contribute to tissue damage and early vascular aging.
  • The findings indicate that mutations acquired during life can diminish tissues’ ability to regenerate, offering evidence that somatic mutations affect aging beyond their established role in cancer.
  • The researchers say the work points to potential biomarkers and therapeutic targets for age-related disease, while emphasizing that human causation and clinical applications require further validation.