Related Experiment Video

Updated: Jul 19, 2026

Biological Preparation and Mechanical Technique for Determining Viscoelastic Properties of Zonular Fibers
06:39

Biological Preparation and Mechanical Technique for Determining Viscoelastic Properties of Zonular Fibers

Published on: December 16, 2021

Recent progress in genetics of Marfan syndrome and Marfan-associated disorders

Takeshi Mizuguchi1,2, Naomichi Matsumoto3,4

  • 1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama, 236-0004, Japan.

Journal of Human Genetics
|October 25, 2006
PubMed

Insights

Marfan syndrome involves connective tissue defects, primarily linked to fibrillin-1. However, transforming growth factor beta (TGFbeta) signaling dysregulation also contributes to Marfan syndrome and related disorders, indicating genetic heterogeneity.

Area of Science:

  • Genetics
  • Molecular Biology
  • Pathology

Background:

  • Marfan syndrome (MFS) is a hereditary connective tissue disorder affecting skeletal, ocular, and cardiovascular systems.
  • Classical MFS is associated with fibrillin-1 defects, but some manifestations require further explanation.
  • Mouse models reveal transforming growth factor beta (TGFbeta) signaling dysregulation in MFS pathogenesis.

Purpose of the Study:

  • To explore the molecular pathogenesis of Marfan syndrome.
  • To investigate the role of TGFbeta signaling in MFS and related disorders.
  • To identify genetic heterogeneity in MFS and associated conditions.

Main Methods:

  • Analysis of mouse Fbn1 manipulation models.
  • Investigation of TGFbeta signaling pathways in affected tissues.
  • Genetic analysis of TGFBR2 and TGFBR1 mutations in patients.

Main Results:

  • Dysregulated TGFbeta signaling implicated in lung, mitral valve, and aortic tissues in MFS mouse models.
  • TGFBR2 and TGFBR1 mutations identified in a subset of MFS patients (MFS2).
  • Genetic heterogeneity confirmed in MFS and related conditions like Loeys-Dietz syndrome and familial thoracic aortic aneurysms.

Conclusions:

  • TGFbeta signaling plays a significant role in the pathogenesis of Marfan syndrome and related disorders.
  • Genetic heterogeneity contributes to the clinical spectrum of MFS and associated conditions.
  • Understanding these pathways is crucial for diagnosing and managing MFS-related conditions.

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Related Concept Videos

Aneurysm I: Introduction01:30

Aneurysm I: Introduction

An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...