دورية أكاديمية
أعرض في EDS

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

التفاصيل البيبلوغرافية
العنوان: Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
المؤلفون: Guo DC; The University of Texas Health Science Center at Houston, Houston, TX 77030, USA., Papke CL, Tran-Fadulu V, Regalado ES, Avidan N, Johnson RJ, Kim DH, Pannu H, Willing MC, Sparks E, Pyeritz RE, Singh MN, Dalman RL, Grotta JC, Marian AJ, Boerwinkle EA, Frazier LQ, LeMaire SA, Coselli JS, Estrera AL, Safi HJ, Veeraraghavan S, Muzny DM, Wheeler DA, Willerson JT, Yu RK, Shete SS, Scherer SE, Raman CS, Buja LM, Milewicz DM
المصدر: American journal of human genetics [Am J Hum Genet] 2009 May; Vol. 84 (5), pp. 617-27. Date of Electronic Publication: 2009 Apr 30.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
أسماء مطبوعة: Publication: 2008- : [Cambridge, MA] : Cell Press
Original Publication: Baltimore, American Society of Human Genetics.
مواضيع طبية MeSH: Actins/*genetics , Aortic Dissection/*genetics , Aortic Aneurysm, Thoracic/*genetics , Coronary Artery Disease/*genetics , Moyamoya Disease/*genetics , Stroke/*genetics, Actins/metabolism ; Adolescent ; Adult ; Aortic Dissection/pathology ; Aortic Aneurysm, Thoracic/pathology ; Cell Proliferation ; Cells, Cultured ; Coronary Artery Disease/pathology ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Models, Molecular ; Moyamoya Disease/pathology ; Mutation ; Myocytes, Smooth Muscle/metabolism ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Young Adult
مستخلص: The vascular smooth muscle cell (SMC)-specific isoform of alpha-actin (ACTA2) is a major component of the contractile apparatus in SMCs located throughout the arterial system. Heterozygous ACTA2 mutations cause familial thoracic aortic aneurysms and dissections (TAAD), but only half of mutation carriers have aortic disease. Linkage analysis and association studies of individuals in 20 families with ACTA2 mutations indicate that mutation carriers can have a diversity of vascular diseases, including premature onset of coronary artery disease (CAD) and premature ischemic strokes (including Moyamoya disease [MMD]), as well as previously defined TAAD. Sequencing of DNA from patients with nonfamilial TAAD and from premature-onset CAD patients independently identified ACTA2 mutations in these patients and premature onset strokes in family members with ACTA2 mutations. Vascular pathology and analysis of explanted SMCs and myofibroblasts from patients harboring ACTA2 suggested that increased proliferation of SMCs contributed to occlusive diseases. These results indicate that heterozygous ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, including TAAD, premature CAD, ischemic strokes, and MMD. These data demonstrate that diffuse vascular diseases resulting from either occluded or enlarged arteries can be caused by mutations in a single gene and have direct implications for clinical management and research on familial vascular diseases.
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معلومات مُعتمدة: R01 HL062594 United States HL NHLBI NIH HHS; P50 NS044227 United States NS NINDS NIH HHS; R01 HL62594 United States HL NHLBI NIH HHS; P50 HL083794 United States HL NHLBI NIH HHS; R01 HL109942 United States HL NHLBI NIH HHS; UL1 RR024148 United States RR NCRR NIH HHS; P50NS044227 United States NS NINDS NIH HHS; P50HL083794-01 United States HL NHLBI NIH HHS
المشرفين على المادة: 0 (ACTA2 protein, human)
0 (Actins)
0 (Protein Isoforms)
تواريخ الأحداث: Date Created: 20090505 Date Completed: 20090609 Latest Revision: 20221207
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC2680995
DOI: 10.1016/j.ajhg.2009.04.007
PMID: 19409525
قاعدة البيانات: MEDLINE
الوصف
تدمد:1537-6605
DOI:10.1016/j.ajhg.2009.04.007