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Human Molecular Genetics Advance Access published online on August 12, 2003
Human Molecular Genetics, doi:10.1093/hmg/ddg276
© 2003 by Oxford University Press
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©2003 Oxford University Press

Article

Extracellular proteases and their inhibitors in genetic diseases of the central nervous system

Florence Molinari 1, Virginia Meskanaite 2, Arnold Munnich 1, Peter Sonderegger 2, and Laurence Colleaux 1*

1 Département de Génétique et Unité de Recherche sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France
2 Institute of Biochemistry, University of Zurich, CH-8057 Zurich, Switzerland

* To whom correspondence should be addressed. E-mail: colleaux{at}necker.fr.


  Abstract

Cumulative evidence has shown that a delicate balance between serine proteases and their inhibitors is crucial for normal functioning of several biological pathways. The importance of proteases and their inhibitors is well documented in several human diseases. Among them, the best documented are hemophilia B, a genetic deficiency of the serine protease coagulation factor IX and serpinophathies. Alpha-1-antitrypsin deficiency (MIM 107400), is associated with early-onset emphysema and liver disease, while hereditary angioedema (HANE; MIM 106100) is caused by mutations in the C1 inhibitor, a serpin involved in the regulation of the complement cascade. Recently, two human genetic diseases of the central nervous system have been related to mutations in components of extracellular proteolytic systems. Here, we review the recent advances in this field.


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