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Published on: August 8, 2022

Marfan syndrome: from molecular pathogenesis to clinical treatment

Francesco Ramirez1, Harry C Dietz

  • 1Child Health Institute of New Jersey, Robert W. Johnson Medical School, 89 French Street, New Brunswick, NJ 08901, USA. ramirefr@umdnj.edu [corrected]

Current Opinion in Genetics & Development
|May 1, 2007
PubMed

Insights

Marfan syndrome, a connective tissue disorder, involves mutations in fibrillin-1, impacting TGFbeta signaling and tissue integrity. This research suggests TGFbeta antagonism as a potential treatment for Marfan syndrome and related conditions.

Area of Science:

  • Genetics and Molecular Biology
  • Developmental Biology
  • Pathology

Background:

  • Marfan syndrome is a genetic connective tissue disorder.
  • It is characterized by ocular, musculoskeletal, and cardiovascular issues.
  • Mutations in fibrillin-1, a key component of extracellular microfibrils, cause Marfan syndrome.

Purpose of the Study:

  • To investigate the role of fibrillin-1 in Marfan syndrome.
  • To explore the connection between fibrillin-1 mutations and TGFbeta signaling.
  • To identify potential therapeutic strategies for Marfan syndrome.

Main Methods:

  • Utilized mouse models of Marfan syndrome.
  • Analyzed the impact of fibrillin-1 mutations on tissue integrity.
  • Investigated alterations in local TGFbeta signaling pathways.

Main Results:

  • Fibrillin-1 mutations impair tissue integrity.
  • These mutations disrupt local TGFbeta signaling.
  • Identified a related syndrome caused by mutations in TGFbeta receptors.

Conclusions:

  • Marfan syndrome is linked to dysregulated TGFbeta signaling.
  • TGFbeta antagonism is a promising therapeutic approach for Marfan syndrome.
  • Marfan syndrome belongs to a class of developmental disorders affecting morphogenesis and organ function.

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