| The haploinsufficient col3a1 mouse as a model for vascular ehlers-danlos syndrome. | |
| | |
MedLine Citation:
|
PMID: 20587693 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
|
Vascular Ehlers-Danlos syndrome is a rare genetic disorder resulting from mutations in the α-1 chain of type III collagen (COL3A1) and manifesting as tissue fragility with spontaneous rupture of the bowel, gravid uterus, or large or medium arteries. The heterozygous Col3a1 knockout mouse was investigated as a model for this disease. The collagen content in the abdominal aorta of heterozygotes was reduced, and functional testing revealed diminishing wall strength of the aorta in these mice. Colons were grossly and histologically normal, but reduced strength and increased compliance of the wall were found in heterozygotes via pressure testing. Although mice demonstrated no life-threatening clinical signs or gross lesions of vascular subtype Ehlers-Danlos syndrome type IV, thorough histological examination of the aorta of heterozygous mice revealed the presence of a spectrum of lesions similar to those observed in human patients. Lesions increased in number and severity with age (0/5 [0%] in 2-month-old males vs 9/9 [100%] in 14-month-old males, P < .05) and were more common in male than female mice (23/26 [88.5%] vs 14/30 [46.7%] in 9- to 21-month-old animals, P < .05). Haploinsufficiency for Col3a1 in mice recapitulates features of vascular Ehlers-Danlos syndrome in humans and can be used as an experimental model. |
| | |
Authors:
|
T K Cooper; Q Zhong; M Krawczyk; H-J Tae; G A Müller; R Schubert; L A Myers; H C Dietz; M I Talan; W Briest |
Related Documents
:
|
3734513 - Pulse wave velocity recordings in a family with ecchymotic ehlers-danlos syndrome. 10645673 - Gulf war syndrome: proposed causes. 7863283 - Lacrimo-auricolo-dento-digital syndrome mimicking primary juvenile sjögren's syndrome. |
Publication Detail:
|
Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't Date: 2010-06-29 |
Journal Detail:
|
Title: Veterinary pathology Volume: 47 ISSN: 1544-2217 ISO Abbreviation: Vet. Pathol. Publication Date: 2010 Nov |
Date Detail:
|
Created Date: 2010-11-02 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0312020 Medline TA: Vet Pathol Country: United States |
Other Details:
|
Languages: eng Pagination: 1028-39 Citation Subset: IM |
Affiliation:
|
Penn State Hershey Medical Center, Department of Comparative Medicine, H054, 500 University Dr., Hershey, PA 17033-0850, USA. tcooper@hmc.psu.edu |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
| Grant Support | |
ID/Acronym/Agency:
|
R01AR41135/AR/NIAMS NIH HHS; ZIA AG000865-02/AG/NIA NIH HHS; //Howard Hughes Medical Institute |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Gelatinous marrow transformation and hematopoietic atrophy in a miniature horse stallion.
Next Document: Pleuropulmonary blastoma in an equine fetus.