Skin elastic fibers in Williams syndrome.
The elastin gene is consistently deleted in Williams syndrome and as this protein represents the major component of the elastic fibers of the dermis, we sought to investigate skin elastic fibers in Williams syndrome as a key to unraveling extracellular matrix disorganization in this condition. Both morphometric parameters analyzed by using automated image analysis and immunofluorescence labeling with monoclonal antibodies against elastin and fibrillin 1 showed a disorganized pre-elastic (oxytalan and elaunin) and mature elastic fibers in the dermis of 10 Williams syndrome patients compared with five healthy children and one patient with isolated supravalvular aortic stenosis. Skin biopsies in Williams syndrome patients provide a simple mean to elucidate extracellular matrix anomalies. Hopefully, this method could give clues to the understanding of the elastic network anomalies in this condition and even to the consequences of these latter on elasticity and resilience of other tissues such as the arterial tree.
Dridi
S M
SM
Laboratory of Physiopathology of non mineralized tissues, Faculté de Chirurgie Dentaire, Montrouge, France.
Ghomrasseni
S
S
Bonnet
D
D
Aggoun
Y
Y
Vabres
P
P
Bodemer
C
C
Lyonnet
S
S
de Prost
Y
Y
Fraitag
S
S
Pellat
B
B
Sidi
D
D
Godeau
G
G
D000293:Adolescent; D001024:Aortic Valve Stenosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D004547:Elastic Tissue / Q000002:abnormalities* / Q000737:chemistry* / Q000473:pathology; D004549:Elastin / Q000032:analysis / Q000172:deficiency / Q000235:genetics; D005109:Extracellular Matrix / Q000737:chemistry / Q000473:pathology; D000071838:Fibrillin-1; D000071837:Fibrillins; D019084:Fluorescent Antibody Technique, Indirect; D006801:Humans; D008840:Microfilament Proteins / Q000032:analysis; D012868:Skin Abnormalities / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D018980:Williams Syndrome / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D054392:Adipokines
D004549:Elastin; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines