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Marfan syndrome in the third Millennium
Gwenaëlle Collod-Béroud1, Catherine Boileau
1INSERM U383, Université Paris V, Hôpital Necker-Enfants Malades, 149-161 rue de sèvres, 75743 Paris Cedex 15, France.
European Journal of Human Genetics : EJHG
|October 31, 2002
Summary
Marfan syndrome (MFS) is a connective tissue disorder affecting multiple systems. Research advances, including animal models, enhance understanding of MFS pathogenesis and clinical variability.
Area of Science:
- Genetics and Molecular Biology
- Connective Tissue Disorders
- Syndromology
Background:
- Marfan syndrome (MFS) is a heritable connective tissue disorder.
- MFS affects skeletal, ocular, and cardiovascular systems, with less studied involvement of lung, skin, and dura.
- Significant clinical variability in onset and severity exists among patients.
Purpose of the Study:
- To review current knowledge on Marfan syndrome.
- To explore the structure and function of fibrillin-1 and related proteins.
- To discuss FBN1 gene mutations, pathogenic mechanisms, and animal models.
Main Methods:
- Review of accumulated clinical, molecular, and protein data.
- Analysis of findings from natural and transgenic animal models.
- Discussion of laboratory diagnostic tests and their limitations.
Main Results:
- Recent data provide deeper insights into MFS pathogenesis.
- Understanding of pleiotropic manifestations and clinical variability has improved.
- Fibrillin-1 structure, function, FBN1 mutations, and animal models are key areas of study.
Conclusions:
- Advances in research offer a better grasp of Marfan syndrome.
- Continued investigation into fibrillin-1 and FBN1 is crucial.
- Current diagnostic tests have limitations that warrant further development.