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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Recent molecular biological progress in Marfan syndrome and Marfan-associated disorders
Ling-Gen Gao1, Fang Luo, Ru-Tai Hui
1Department of Cardiology, FuWai Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, 167 Beilishi Road, Beijing 100037, China.
Abstract:
Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance. Advances in medicine and surgery have increased the average lifespan of classically affected patients. Serious visual and/or musculoskeletal impairment often has detrimental effects on day-to-day activities and quality of life. MFS patients suffer from many problems at younger ages and with higher frequencies than the general population because of the degenerative nature of the genetic condition. In classical MFS, changes are caused by mutations in the fibrillin-1 gene (FBN1). Mutations in the fibrillin-2 gene were discovered in individuals with a phenotypically related disorder, congenital contractural arachnodactyly. Some of the clinical manifestations of MFS cannot be explained by mechanical properties alone. Recently, mutations in the genes required for transforming growth factor-beta signaling (TGFBR1 and TGFBR2) have been found in several disorders with varying degrees of overlap with classical MFS, including Loeys-Dietz syndrome and familial thoracic aortic aneurysms and dissections. MFS is a disorder that is variable in its phenotypic expression. Specific information about mutations in the large FBN1 gene will give rise to more information about the phenotype-genotype correlations. Possible molecular mechanisms for the pathogenesis of MFS will be discussed which may assist healthcare professionals to control environmental factors that provoke individual complications in MFS.
Insights
Marfan syndrome (MFS) is a genetic connective tissue disorder affecting multiple body systems. Understanding fibrillin-1 gene mutations and TGF-beta signaling pathways is key to managing MFS complications and improving patient quality of life.
Area of Science:
- Genetics
- Molecular Biology
- Medical Science
Background:
- Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder.
- Advances in medical and surgical care have improved lifespan for MFS patients.
- MFS significantly impacts daily activities and quality of life due to visual and musculoskeletal impairments.
Purpose of the Study:
- To explore the genetic basis of Marfan syndrome, focusing on fibrillin-1 gene mutations.
- To investigate the role of transforming growth factor-beta (TGF-β) signaling pathway genes in MFS and related disorders.
- To discuss molecular mechanisms underlying MFS pathogenesis and phenotype-genotype correlations.
Main Methods:
- Review of genetic mutations in fibrillin-1 (FBN1) associated with classical MFS.
- Identification of fibrillin-2 (FBN2) gene mutations in related disorders like congenital contractural arachnodactyly.
- Analysis of mutations in TGF-β signaling genes (TGFBR1, TGFBR2) in overlapping conditions.
Main Results:
- Classical MFS is primarily linked to mutations in the FBN1 gene.
- FBN2 mutations are associated with congenital contractural arachnodactyly.
- Mutations in TGF-β pathway genes are implicated in disorders overlapping with MFS, such as Loeys-Dietz syndrome.
Conclusions:
- Phenotypic variability in MFS necessitates detailed genotype-phenotype correlation studies.
- Understanding molecular mechanisms can help healthcare professionals manage environmental factors triggering MFS complications.
- Further research into FBN1 mutations will enhance knowledge of MFS pathogenesis and clinical management.
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