دورية أكاديمية
Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: evidence for a hyperplastic vasculomyopathy.
| العنوان: | Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: evidence for a hyperplastic vasculomyopathy. |
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| المؤلفون: | Milewicz DM; From the Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Texas, USA. Dianna.M.Milewicz@uth.tmc.edu, Kwartler CS, Papke CL, Regalado ES, Cao J, Reid AJ |
| المصدر: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2010 Apr; Vol. 12 (4), pp. 196-203. |
| نوع المنشور: | Case Reports; Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2022- : [New York] : Elsevier Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998- |
| مواضيع طبية MeSH: | Cell Proliferation* , Mutation*, Myocytes, Smooth Muscle/*metabolism , Vascular Diseases/*genetics, Actins/genetics ; Adult ; Coronary Vessels/metabolism ; Coronary Vessels/pathology ; Humans ; Hyperplasia ; Myocytes, Smooth Muscle/pathology ; Neurofibromin 1/genetics ; Vascular Diseases/pathology |
| مستخلص: | Genetic predisposition to early onset of occlusive vascular diseases, including coronary artery disease, ischemic stroke, and Moyamoya disease, may represent varying presentations of a common underlying dysregulation of vascular smooth muscle cell proliferation. We discuss mutations in two genes, NF1 and ACTA2, which predispose affected individuals to diffuse and diverse vascular diseases. These patients show evidence of diffuse occlusive disease in multiple arterial beds or even develop seemingly diverse arterial pathologies, ranging from occlusions to arterial aneurysms. We also present the current evidence that both NF1 and ACTA2 mutations promote increased smooth muscle cell proliferation in vitro and in vivo, which leads us to propose that these diffuse and diverse vascular diseases are the outward signs of a more fundamental disease: a hyperplastic vasculomyopathy. We suggest that the concept of a hyperplastic vasculomyopathy offers a new approach not only to identifying mutated genes that lead to vascular diseases but also to counseling and possibly treating patients harboring such mutations. In other words, this framework may offer the opportunity to therapeutically target the inappropriate smooth muscle cell behavior that predisposes to a variety of vascular diseases throughout the arterial system. |
| Number of References: | 55 |
| المشرفين على المادة: | 0 (ACTA2 protein, human) 0 (Actins) 0 (Neurofibromin 1) |
| تواريخ الأحداث: | Date Created: 20100205 Date Completed: 20100810 Latest Revision: 20220210 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1097/GIM.0b013e3181cdd687 |
| PMID: | 20130469 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1530-0366 |
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| DOI: | 10.1097/GIM.0b013e3181cdd687 |