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Updated: Jul 22, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

The molecular genetics of Marfan syndrome and related disorders

P N Robinson1, E Arteaga-Solis, C Baldock

  • 1Institute of Medical Genetics, Charité University Hospital, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany. peter.robinson@charite.de

Journal of Medical Genetics
|March 31, 2006
PubMed

Insights

Marfan syndrome (MFS) is a genetic connective tissue disorder caused by FBN1 gene mutations. Understanding fibrillin

Area of Science:

  • Genetics
  • Molecular Biology
  • Connective Tissue Disorders

Background:

  • Marfan syndrome (MFS) is an autosomal dominant hereditary disorder affecting skeletal, ocular, and cardiovascular systems.
  • Mutations in the fibrillin-1 (FBN1) gene are the primary cause of MFS.
  • Acute aortic dissection, often following aortic dilatation, is the leading cause of premature death in untreated MFS patients.

Purpose of the Study:

  • To provide a comprehensive overview of recent advances in the molecular biology of fibrillin and fibrillin-rich microfibrils.
  • To discuss mutations in FBN1 and other genes associated with MFS and related disorders.
  • To explain novel concepts regarding the complex pathogenesis of MFS.

Main Methods:

  • Review of recent research on molecular physiology of fibrillin.
  • Analysis of pathophysiology of MFS and related disorders.
  • Discussion of genetic mutations and their impact on disease mechanisms.

Main Results:

  • Recent research has elucidated changes in growth factor signaling and matrix-cell interactions in MFS.
  • Understanding of MFS pathophysiology has evolved through studies on fibrillin's molecular physiology.
  • FBN1 mutations and their role in MFS pathogenesis are increasingly understood.

Conclusions:

  • Advances in molecular biology have reshaped the understanding of Marfan syndrome.
  • Fibrillin-1 and its associated pathways are critical in MFS pathogenesis.
  • Further research into genetic mutations and molecular mechanisms is crucial for MFS management.

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