A progeroid family was found to harbor a pathogenic variant in the CASP5 gene that encodes inflammatory caspase 5. Caspase 5-depleted fibroblasts exhibited hyper-activation of inflammatory cytokines in response to pro-inflammatory stimuli. Long-term intermittent hyper-inflammatory response is likely the cause of the accelerated aging phenotype comprised of earlier onset of common aging diseases, supporting inflammaging as a potential common disease mechanism of progeroid syndromes and possibly normative aging.
Keywords: Aging; CASP5; Genetic disorder; Human; Inflammation; Progeroid syndrome.
© 2023. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.