Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology

被引:62
作者
Zweers, MC
van Vlijmen-Willems, IM
van Kuppevelt, TH
Mecham, RP
Steijlen, PM
Bristow, J
Schalkwijk, J
机构
[1] Univ Med Ctr, St Radboud Nijmegen, Dept Dermatol, NL-6500 HB Nijmegen, Netherlands
[2] Univ Med Ctr, St Radboud Nijmegen, Dept Biochem, NL-6500 HB Nijmegen, Netherlands
[3] Washington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MO 63110 USA
[4] Washington Univ, Sch Med, Dept Med, St Louis, MO 63110 USA
[5] Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA
关键词
connective tissue; dermis; Ehlers-Danlos syndrome; immunohistochemistry;
D O I
10.1111/j.0022-202X.2004.22401.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Deficiency of the extracellular matrix protein tenascin-X (TNX) was recently described as the molecular basis of a new, recessive type of Ehlers-Danlos syndrome. Here we report gross abnormalities of the elastic fibers and microfibrils in the dermis of these patients, and reduced dermal collagen content, as determined by quantitative image analysis. The ascending, fine elastic fibers in the papillary dermis were absent or inconspicuous and had few branches. The coarse elastic fibers of the reticular dermis were fragmented and clumped. At the ultrastructural level, irregular and immature elastin fibers and fibers devoid of microfibrils were observed. In TNX-deficient patients the dermal collagen density was reduced, but no structural abnormalities in the collagen fibrils were found. These findings suggest that both elastic fiber abnormalities and reduced collagen content contribute to the observed phenotype in TNX-deficient patients.
引用
收藏
页码:885 / 891
页数:7
相关论文
共 34 条
[11]   Cell adhesion to tenascin-X - Mapping of cell adhesion sites and identification of integrin receptors [J].
Elefteriou, F ;
Exposito, JY ;
Garrone, R ;
Lethias, C .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1999, 263 (03) :840-848
[12]   Binding of tenascin-X to decorin [J].
Elefteriou, F ;
Exposito, JY ;
Garrone, R ;
Lethias, C .
FEBS LETTERS, 2001, 495 (1-2) :44-47
[13]   Tenascin-C, tenascin-R and tenascin-X: a family of talented proteins in search of functions [J].
Erickson, Harold P. .
CURRENT OPINION IN CELL BIOLOGY, 1993, 5 (05) :869-876
[14]  
GEFFROTIN C, 1995, EUR J BIOCHEM, V231, P83, DOI 10.1111/j.1432-1033.1995.0083f.x
[15]   Fibrillin: from domain structure to supramolecular assembly [J].
Handford, PA ;
Downing, AK ;
Reinhardt, DP ;
Sakai, LY .
MATRIX BIOLOGY, 2000, 19 (06) :457-470
[16]  
HAUSSER I, 1994, HUM GENET, V93, P394
[17]   SKIN IS A WINDOW ON HERITABLE DISORDERS OF CONNECTIVE-TISSUE [J].
HOLBROOK, KA ;
BYERS, PH .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (01) :105-121
[18]  
Jones FS, 2000, DEV DYNAM, V218, P235, DOI 10.1002/(SICI)1097-0177(200006)218:2<235::AID-DVDY2>3.0.CO
[19]  
2-G
[20]   Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa [J].
Loeys, B ;
Van Maldergem, L ;
Mortier, G ;
Coucke, P ;
Gerniers, S ;
Naeyaert, JM ;
De Paepe, A .
HUMAN MOLECULAR GENETICS, 2002, 11 (18) :2113-2118