Marfan Syndrome

Marfan Syndrome (MFS) is a frequent disorder with an autosomal dominant pattern of inheritance.  It features symptoms affecting the cardiovascular system, skeleton and eyes. MFS is caused by mutations in the gene for fibrillin 1 (FBN1). Fibrilin 1 is a main component of extracellular micro-fibrils which are found together with elastin in elastic fibers in tissues like the aorta, and isolated in the lentil-suspensory-ribbons of the eye. Pathogenesis of MFS is only partially understood on a molecular level. Most likely FBN1 mutations result in a combination of defects such as: a dominant negative effect on the synthesis of high polymer micro-fibrils, reduced tissue homeostasis, alterations in the TGFβ metabolic pathway and an increased liability of fibrilin to proteolysis.

Our group is interested in FBN1-genotype-phenotype-correlations, promotor analyses of the three fibrilin genes and the in vitro and in vivo testing of functional effects of FBN1 mutations.

The Marfan Syndrome: A Primer for Clinicians and Scientists

This book offers a comprehensive overview of clinical and scientific aspects of the Marfan Syndrome.

The Marfan Syndrome
A Primer for Clinicians and Scientists
Series: Medical Intelligence Unit,
Robinson, Peter N.; Godfrey, Maurice (editor)
2004, 232 S., gebunden
ISBN: 0-306-48238-X

Contact

Prof. Dr. Peter Robinson

Assistant Professor

Charité - Universitaetsmedizin Berlin

CVK: Campus Virchow-Klinikum

Charité Center Gynecology, Perinatal, Pediatric & Adolescent Medicine with Perinatal Center & Human Genetics CC 17

Institute of Medical Genetics and Human Genetics

Institute of Medical Genetics and Human Genetics

Postal address:

Augustenburger Platz 1

13353 Berlin

Internal address:

Institutsgebaeude Sued, Suedstr. 2

t: +49 30 450 566 006

f: +49 30 450 569915

Map

Contact

Prof. Dr. Peter Robinson
Assistant Professor
t: +49 30 450 566 006