Salybekov, A.A.; Hassanpour, M. Unveiling the Genetic Footprint: Exploring Somatic Mutations in Peripheral Arterial Disease Progression. Biomedicines2023, 11, 2288.
Salybekov, A.A.; Hassanpour, M. Unveiling the Genetic Footprint: Exploring Somatic Mutations in Peripheral Arterial Disease Progression. Biomedicines 2023, 11, 2288.
Salybekov, A.A.; Hassanpour, M. Unveiling the Genetic Footprint: Exploring Somatic Mutations in Peripheral Arterial Disease Progression. Biomedicines2023, 11, 2288.
Salybekov, A.A.; Hassanpour, M. Unveiling the Genetic Footprint: Exploring Somatic Mutations in Peripheral Arterial Disease Progression. Biomedicines 2023, 11, 2288.
Abstract
Peripheral arterial diseases (PAD) are complex cardiovascular conditions influenced by environmental factors and somatic mutations in multiple genes involved in hematopoiesis and inflammation. While traditional risk factors such as smoking, hypercholesterolemia, and hypertension have been extensively studied, the role of somatic mutations in PAD progression remains underexplored. This article aims to provide a comprehensive review of the molecular mechanisms, genetic landscape, prognostic significance, and clinical implications of somatic mutations in PAD. The expansion of clonal hematopoiesis of indeterminate potential (CHIP) clones in the circulating blood, named clonal hematopoiesis (CH), leads to the infiltration of these clones into atherosclerotic plaques and the production of inflammatory cytokines, increasing the risk of cardiovascular diseases including PAD. Furthermore, recent experimental evidence has demonstrated the involvement of somatically mutated TP53 genes with a high variant allele frequency (VAF) in PAD development and prognosis. The review delves into the relationship between CH and PAD, elucidating the prevalence, impact, and underlying mechanisms of this association. This understanding paves the way for novel therapeutic approaches targeting CHIP to promote tissue regeneration and improve outcomes in PAD patients. It emphasizes the need for further re-search to fully unravel the genetic footprint of the disease and highlights potential clinical implications. The findings presented in this article lay the foundation for personalized medicine approaches and open avenues for the development of targeted therapies based on somatic mutation profiling.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
