Role of somatic mutations in vascular disease formation

Sarah M. Weakley, Jun Jiang, Panagiotis Kougias, Peter H. Lin, Qizhi Yao, F. Charles Brunicardi, Richard A. Gibbs, Changyi Chen

Research output: Contribution to journalReview articlepeer-review

28 Scopus citations


Coronary artery disease, cerebrovascular disease, pulmonary artery hypertension and Alzheimers disease all lead to substantial morbidity and mortality, and we currently lack effective treatments for these vascular diseases. Since the discovery, decades ago, that atherosclerotic lesions display clonal growth, atherosclerosis and other vascular diseases have been postulated to be neoplastic processes, arising through a series of critical somatic mutations. There is conflicting evidence supporting this but studies of DNA damage and mutagenesis, both genomic and mitochondrial, in atherosclerotic and vascular lesions, have yielded evidence that somatic mutations are involved in atherogenesis and vascular disease development. The roles of mitochondrial DNA damage, oxidative stress and signaling by members of the TGF-β receptor family are implicated. With the increasing convenience and cost-effectiveness of genome sequencing, it is feasible to continue to seek specific genetic targets in the pathogenesis of these devastating diseases, with the hope of developing personalized genomic medicine in the future.

Original languageEnglish (US)
Pages (from-to)173-185
Number of pages13
JournalExpert Review of Molecular Diagnostics
Issue number2
StatePublished - Mar 2010
Externally publishedYes


  • Atherosclerosis
  • Human genome project
  • Mitochondrial DNA
  • Pulmonary artery hypertension
  • Somatic mutation

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine
  • Molecular Biology
  • Genetics


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