Collagen Type VI Expression during Cardiac Development and in Human Fetuses with Trisomy 21

Adriana C. Gittenberger-De Groot, Ulrike Bartram, Petra W. Oosthoek, Margot M. Bartelings, Bianca Hogers, Robert E. Poelmann, Ian N. Jongewaard, Scott E Klewer

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

The role played by specific extracellular matrix molecules in normal endocardial cushion differentiation into valves and septa remains to be established. In this respect, type collagen VI is of particular interest because genes encoding the α1 and α2 chains are located on chromosome 21, and defects involving the atrioventricular (AV) cushions are frequent in trisomy 21. Collagen VI expression was studied in normal human embryonic and fetal hearts (5-18 weeks of development) and compared by immunohistochemistry with results from fetuses (10-16 weeks of development) with trisomy 21. During normal endocardial cushion differentiation (5-8 weeks) there was marked collagen VI expression in the AV cushions, whereas only minor expression was seen in the outflow tract cushions. In the normal fetuses (10-18 weeks), collagen VI in the AV cushions had condensed into a marked zone on the atrial side of the leaflets, as well as subendocardially in other regions of high shear stress. Morphological defects involving the endocardial cushion-derived structures were present in all trisomy 21 cases. An abnormally large membranous septum was observed in three cases. An AV septal defect (AVSD) was present in two, while one had a ventricular septal defect (VSD). Two cases presented with a secondary atrial septal defect (ASDII), and one had an AVSD. Mild to moderate valve dysmorphia was found in all cases. Collagen VI staining in trisomy 21 was more intense than in the normal subjects; however, there were no differences in the spatial expression patterns. We conclude that collagen VI is expressed in the AV cushions and persists during valve differentiation. Collagen VI is more prominent in fetal trisomy 21 hearts than in normal hearts. We hypothesise that collagen VI has a role in the development of heart defects involving endocardial cushion differentiation-specifically in the AV canal, the most common site of malformations affecting children with trisomy 21.

Original languageEnglish (US)
Pages (from-to)1109-1116
Number of pages8
JournalAnatomical Record - Part A Discoveries in Molecular, Cellular, and Evolutionary Biology
Volume275
Issue number2
StatePublished - Dec 2003

Fingerprint

Collagen Type VI
trisomics
collagen
Human Development
Down Syndrome
fetus
Fetus
Collagen
defect
Endocardial Cushions
Endocardial Cushion Defects
heart
Fetal Heart
Chromosomes, Human, Pair 21
Atrial Heart Septal Defects
Ventricular Heart Septal Defects
Extracellular Matrix
extracellular matrix
shear stress
immunohistochemistry

Keywords

  • Atrioventricular septal defects
  • Down's syndrome
  • Endocardial cushion defects
  • Trisomy 21
  • Type VI collagen

ASJC Scopus subject areas

  • Agricultural and Biological Sciences (miscellaneous)
  • Anatomy

Cite this

Gittenberger-De Groot, A. C., Bartram, U., Oosthoek, P. W., Bartelings, M. M., Hogers, B., Poelmann, R. E., ... Klewer, S. E. (2003). Collagen Type VI Expression during Cardiac Development and in Human Fetuses with Trisomy 21. Anatomical Record - Part A Discoveries in Molecular, Cellular, and Evolutionary Biology, 275(2), 1109-1116.

Collagen Type VI Expression during Cardiac Development and in Human Fetuses with Trisomy 21. / Gittenberger-De Groot, Adriana C.; Bartram, Ulrike; Oosthoek, Petra W.; Bartelings, Margot M.; Hogers, Bianca; Poelmann, Robert E.; Jongewaard, Ian N.; Klewer, Scott E.

In: Anatomical Record - Part A Discoveries in Molecular, Cellular, and Evolutionary Biology, Vol. 275, No. 2, 12.2003, p. 1109-1116.

Research output: Contribution to journalArticle

Gittenberger-De Groot, AC, Bartram, U, Oosthoek, PW, Bartelings, MM, Hogers, B, Poelmann, RE, Jongewaard, IN & Klewer, SE 2003, 'Collagen Type VI Expression during Cardiac Development and in Human Fetuses with Trisomy 21', Anatomical Record - Part A Discoveries in Molecular, Cellular, and Evolutionary Biology, vol. 275, no. 2, pp. 1109-1116.
Gittenberger-De Groot AC, Bartram U, Oosthoek PW, Bartelings MM, Hogers B, Poelmann RE et al. Collagen Type VI Expression during Cardiac Development and in Human Fetuses with Trisomy 21. Anatomical Record - Part A Discoveries in Molecular, Cellular, and Evolutionary Biology. 2003 Dec;275(2):1109-1116.
Gittenberger-De Groot, Adriana C. ; Bartram, Ulrike ; Oosthoek, Petra W. ; Bartelings, Margot M. ; Hogers, Bianca ; Poelmann, Robert E. ; Jongewaard, Ian N. ; Klewer, Scott E. / Collagen Type VI Expression during Cardiac Development and in Human Fetuses with Trisomy 21. In: Anatomical Record - Part A Discoveries in Molecular, Cellular, and Evolutionary Biology. 2003 ; Vol. 275, No. 2. pp. 1109-1116.
@article{96e0277ed7974bf1b3f7286fbb493686,
title = "Collagen Type VI Expression during Cardiac Development and in Human Fetuses with Trisomy 21",
abstract = "The role played by specific extracellular matrix molecules in normal endocardial cushion differentiation into valves and septa remains to be established. In this respect, type collagen VI is of particular interest because genes encoding the α1 and α2 chains are located on chromosome 21, and defects involving the atrioventricular (AV) cushions are frequent in trisomy 21. Collagen VI expression was studied in normal human embryonic and fetal hearts (5-18 weeks of development) and compared by immunohistochemistry with results from fetuses (10-16 weeks of development) with trisomy 21. During normal endocardial cushion differentiation (5-8 weeks) there was marked collagen VI expression in the AV cushions, whereas only minor expression was seen in the outflow tract cushions. In the normal fetuses (10-18 weeks), collagen VI in the AV cushions had condensed into a marked zone on the atrial side of the leaflets, as well as subendocardially in other regions of high shear stress. Morphological defects involving the endocardial cushion-derived structures were present in all trisomy 21 cases. An abnormally large membranous septum was observed in three cases. An AV septal defect (AVSD) was present in two, while one had a ventricular septal defect (VSD). Two cases presented with a secondary atrial septal defect (ASDII), and one had an AVSD. Mild to moderate valve dysmorphia was found in all cases. Collagen VI staining in trisomy 21 was more intense than in the normal subjects; however, there were no differences in the spatial expression patterns. We conclude that collagen VI is expressed in the AV cushions and persists during valve differentiation. Collagen VI is more prominent in fetal trisomy 21 hearts than in normal hearts. We hypothesise that collagen VI has a role in the development of heart defects involving endocardial cushion differentiation-specifically in the AV canal, the most common site of malformations affecting children with trisomy 21.",
keywords = "Atrioventricular septal defects, Down's syndrome, Endocardial cushion defects, Trisomy 21, Type VI collagen",
author = "{Gittenberger-De Groot}, {Adriana C.} and Ulrike Bartram and Oosthoek, {Petra W.} and Bartelings, {Margot M.} and Bianca Hogers and Poelmann, {Robert E.} and Jongewaard, {Ian N.} and Klewer, {Scott E}",
year = "2003",
month = "12",
language = "English (US)",
volume = "275",
pages = "1109--1116",
journal = "Anatomical Record",
issn = "1932-8486",
publisher = "John Wiley and Sons Inc.",
number = "2",

}

TY - JOUR

T1 - Collagen Type VI Expression during Cardiac Development and in Human Fetuses with Trisomy 21

AU - Gittenberger-De Groot, Adriana C.

AU - Bartram, Ulrike

AU - Oosthoek, Petra W.

AU - Bartelings, Margot M.

AU - Hogers, Bianca

AU - Poelmann, Robert E.

AU - Jongewaard, Ian N.

AU - Klewer, Scott E

PY - 2003/12

Y1 - 2003/12

N2 - The role played by specific extracellular matrix molecules in normal endocardial cushion differentiation into valves and septa remains to be established. In this respect, type collagen VI is of particular interest because genes encoding the α1 and α2 chains are located on chromosome 21, and defects involving the atrioventricular (AV) cushions are frequent in trisomy 21. Collagen VI expression was studied in normal human embryonic and fetal hearts (5-18 weeks of development) and compared by immunohistochemistry with results from fetuses (10-16 weeks of development) with trisomy 21. During normal endocardial cushion differentiation (5-8 weeks) there was marked collagen VI expression in the AV cushions, whereas only minor expression was seen in the outflow tract cushions. In the normal fetuses (10-18 weeks), collagen VI in the AV cushions had condensed into a marked zone on the atrial side of the leaflets, as well as subendocardially in other regions of high shear stress. Morphological defects involving the endocardial cushion-derived structures were present in all trisomy 21 cases. An abnormally large membranous septum was observed in three cases. An AV septal defect (AVSD) was present in two, while one had a ventricular septal defect (VSD). Two cases presented with a secondary atrial septal defect (ASDII), and one had an AVSD. Mild to moderate valve dysmorphia was found in all cases. Collagen VI staining in trisomy 21 was more intense than in the normal subjects; however, there were no differences in the spatial expression patterns. We conclude that collagen VI is expressed in the AV cushions and persists during valve differentiation. Collagen VI is more prominent in fetal trisomy 21 hearts than in normal hearts. We hypothesise that collagen VI has a role in the development of heart defects involving endocardial cushion differentiation-specifically in the AV canal, the most common site of malformations affecting children with trisomy 21.

AB - The role played by specific extracellular matrix molecules in normal endocardial cushion differentiation into valves and septa remains to be established. In this respect, type collagen VI is of particular interest because genes encoding the α1 and α2 chains are located on chromosome 21, and defects involving the atrioventricular (AV) cushions are frequent in trisomy 21. Collagen VI expression was studied in normal human embryonic and fetal hearts (5-18 weeks of development) and compared by immunohistochemistry with results from fetuses (10-16 weeks of development) with trisomy 21. During normal endocardial cushion differentiation (5-8 weeks) there was marked collagen VI expression in the AV cushions, whereas only minor expression was seen in the outflow tract cushions. In the normal fetuses (10-18 weeks), collagen VI in the AV cushions had condensed into a marked zone on the atrial side of the leaflets, as well as subendocardially in other regions of high shear stress. Morphological defects involving the endocardial cushion-derived structures were present in all trisomy 21 cases. An abnormally large membranous septum was observed in three cases. An AV septal defect (AVSD) was present in two, while one had a ventricular septal defect (VSD). Two cases presented with a secondary atrial septal defect (ASDII), and one had an AVSD. Mild to moderate valve dysmorphia was found in all cases. Collagen VI staining in trisomy 21 was more intense than in the normal subjects; however, there were no differences in the spatial expression patterns. We conclude that collagen VI is expressed in the AV cushions and persists during valve differentiation. Collagen VI is more prominent in fetal trisomy 21 hearts than in normal hearts. We hypothesise that collagen VI has a role in the development of heart defects involving endocardial cushion differentiation-specifically in the AV canal, the most common site of malformations affecting children with trisomy 21.

KW - Atrioventricular septal defects

KW - Down's syndrome

KW - Endocardial cushion defects

KW - Trisomy 21

KW - Type VI collagen

UR - http://www.scopus.com/inward/record.url?scp=0344395201&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0344395201&partnerID=8YFLogxK

M3 - Article

C2 - 14613310

AN - SCOPUS:0344395201

VL - 275

SP - 1109

EP - 1116

JO - Anatomical Record

JF - Anatomical Record

SN - 1932-8486

IS - 2

ER -