Source:http://linkedlifedata.com/resource/pubmed/id/17994018
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
12
|
| pubmed:dateCreated |
2007-11-29
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| pubmed:abstractText |
The major function of vascular smooth muscle cells (SMCs) is contraction to regulate blood pressure and flow. SMC contractile force requires cyclic interactions between SMC alpha-actin (encoded by ACTA2) and the beta-myosin heavy chain (encoded by MYH11). Here we show that missense mutations in ACTA2 are responsible for 14% of inherited ascending thoracic aortic aneurysms and dissections (TAAD). Structural analyses and immunofluorescence of actin filaments in SMCs derived from individuals heterozygous for ACTA2 mutations illustrate that these mutations interfere with actin filament assembly and are predicted to decrease SMC contraction. Aortic tissues from affected individuals showed aortic medial degeneration, focal areas of medial SMC hyperplasia and disarray, and stenotic arteries in the vasa vasorum due to medial SMC proliferation. These data, along with the previously reported MYH11 mutations causing familial TAAD, indicate the importance of SMC contraction in maintaining the structural integrity of the ascending aorta.
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| pubmed:grant | |
| pubmed:commentsCorrections | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Dec
|
| pubmed:issn |
1546-1718
|
| pubmed:author |
pubmed-author:AbueloDianneD,
pubmed-author:AdesLesleyL,
pubmed-author:AhnChulC,
pubmed-author:AmorDavidD,
pubmed-author:AvidanNiliN,
pubmed-author:BourgeoisScottS,
pubmed-author:BujaL MaximilianLM,
pubmed-author:EstreraAnthony LAL,
pubmed-author:GuoDong-ChuanDC,
pubmed-author:KimDong HDH,
pubmed-author:LewisRichard ARA,
pubmed-author:McConnellVivienneV,
pubmed-author:MilewiczDianna MDM,
pubmed-author:PannuHariyadarshiH,
pubmed-author:PapkeChristina LCL,
pubmed-author:RamanC SCS,
pubmed-author:SafiHazim JHJ,
pubmed-author:SchererSteveS,
pubmed-author:SheteSanjay SSS,
pubmed-author:SparksElizabethE,
pubmed-author:Tran-FaduluVanV,
pubmed-author:TungPoyee PPP,
pubmed-author:WillingMarciaM,
pubmed-author:WilloughbyColin ECE,
pubmed-author:YuRobert KRK
|
| pubmed:issnType |
Electronic
|
| pubmed:volume |
39
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1488-93
|
| pubmed:dateRevised |
2008-2-4
|
| pubmed:meshHeading |
pubmed-meshheading:17994018-Actins,
pubmed-meshheading:17994018-Aneurysm, Dissecting,
pubmed-meshheading:17994018-Aorta,
pubmed-meshheading:17994018-Aortic Aneurysm, Thoracic,
pubmed-meshheading:17994018-Female,
pubmed-meshheading:17994018-Genetic Predisposition to Disease,
pubmed-meshheading:17994018-Humans,
pubmed-meshheading:17994018-Male,
pubmed-meshheading:17994018-Mutation, Missense,
pubmed-meshheading:17994018-Myocytes, Smooth Muscle,
pubmed-meshheading:17994018-Pedigree
|
| pubmed:year |
2007
|
| pubmed:articleTitle |
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
|
| pubmed:affiliation |
Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
|