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Updated: Oct 30, 2025

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

Published on: August 15, 2019

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The Molecular Genetics of Marfan Syndrome

Qiu Du1, Dingding Zhang1,2, Yue Zhuang3

  • 1Marfan Research Group, College of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, 610072, Sichuan, China.

International Journal of Medical Sciences
|July 5, 2021
PubMed

Insights

Marfan syndrome (MFS) involves genetic and epigenetic factors affecting connective tissues. Understanding MFS genes and assessment technologies aids early diagnosis and treatment.

Area of Science:

  • Genetics and Molecular Biology
  • Connective Tissue Diseases
  • Medical Research

Background:

  • Marfan syndrome (MFS) is a rare connective tissue disorder impacting cardiovascular, ocular, and skeletal systems.
  • Genetic factors, including FBN1 mutations and alterations in TGF-β signaling, are central to MFS pathogenesis.
  • Epigenetic modifications, such as DNA methylation and histone acetylation, also play a regulatory role in MFS.

Purpose of the Study:

  • To provide an updated review of Marfan syndrome-related genes.
  • To discuss relevant assessment technologies for MFS.
  • To establish a foundation for early diagnosis, consultation, and treatment of MFS.

Main Methods:

  • Literature review of genetic and molecular mechanisms in Marfan syndrome.
  • Analysis of the role of FBN1 and TGF-β signaling pathway.
  • Examination of epigenetic factors in MFS pathogenesis.
  • Review of current diagnostic and assessment technologies.

Main Results:

  • FBN1 mutations are a primary cause of MFS, with other genes like TGFBR1/2 and LTBP2 also implicated.
  • Aberrant TGF-β signaling, potentially due to FBN1 mutations, contributes to aneurysm development in MFS.
  • Epigenetic factors, including FBN1 DNA methylation and histone acetylation, are involved in MFS regulation.
  • Overlapping features exist between MFS and related genetic syndromes.

Conclusions:

  • A comprehensive understanding of MFS-related genes and epigenetic factors is crucial.
  • Advanced assessment technologies are vital for early and accurate MFS diagnosis.
  • Further research into molecular mechanisms will improve MFS management and patient outcomes.
Keywords:
Marfan syndromediagnosegeneticstechnology

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