Related Experiment Video

Updated: Sep 26, 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

Genetic fibrillinopathies: new insights in molecular diagnosis and clinical management

B L Loeys, D M Matthys, A M de Paepe

    Acta Clinica Belgica
    |May 2, 2003
    PubMed

    Insights

    Marfan syndrome (MFS) is a genetic connective tissue disorder caused by fibrillin-1 (FBN1) mutations. This review covers MFS diagnosis, management, FBN1 mutation analysis, and pathogenesis insights from mouse models.

    Area of Science:

    • Genetics
    • Molecular Biology
    • Pathology

    Background:

    • Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder affecting 2-3 per 10,000 individuals.
    • Key features include skeletal overgrowth, cutaneous striae, ectopia lentis, and aortic dilatation, potentially leading to dissection.
    • Mutations in the fibrillin-1 (FBN1) gene are the primary cause, leading to a group of disorders known as fibrillinopathies.

    Discussion:

    • Fibrillin-1 is crucial for extracellular microfibrils, which are components of elastic fibers.
    • This article reviews current diagnostic criteria and medical management strategies for MFS.
    • It also evaluates the utility of FBN1 mutation analysis in diagnosis and understanding genotype-phenotype correlations.

    Key Insights:

    • Fibrillin-1 mutations are central to MFS pathogenesis.
    • Understanding genotype-phenotype correlations is vital for personalized patient care.
    • Mouse models provide valuable insights into the molecular mechanisms underlying MFS.

    Outlook:

    • Further research into fibrillinopathies may reveal novel therapeutic targets.
    • Advancements in genetic analysis will refine MFS diagnosis and classification.
    • Continued investigation using animal models will deepen our understanding of MFS pathogenesis.

    More Related Videos

    Experimental and Imaging Techniques for Examining Fibrin Clot Structures in Normal and Diseased States07:09

    Experimental and Imaging Techniques for Examining Fibrin Clot Structures in Normal and Diseased States

    Published on: April 1, 2015

    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

    Related Concept Videos

    Amyloid Fibrils03:03

    Amyloid Fibrils

    Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
    Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
    Amyloid Fibrils03:03

    Amyloid Fibrils

    Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
    Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
    Fibril-associated Collagen01:11

    Fibril-associated Collagen

    Fibril-associated collagens are a type of collagens present in the extracellular matrix with interrupted triple helices or FACIT (Fibril-associated collagens interrupted triple-helices). FACIT help connect and attach the collagen fibrils with each other as well as with other proteins of the extracellular matrix.
    For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
    Types of Intermediate Filaments01:31

    Types of Intermediate Filaments

    The intermediate filaments are an essential component of the cytoskeleton. Presently six types of intermediate filament have been identified. Type I and II are acidic and basic keratin proteins. Type III is of mesodermal origin and comprises four proteins: vimentin, desmin, glial fibrillary acidic protein (GFAP), and peripherin. Vimentin is commonly found in mesenchymal cells, desmin in muscle cells, GFAP in astrocytes, while peripherin is found in peripheral nervous system neurons (PNS). Type...
    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...
    Cytoskeletal Linker Proteins - Plakins01:09

    Cytoskeletal Linker Proteins - Plakins

    Plakins are large proteins with binding domains for microtubules, microfilaments, intermediate filaments, and membrane-associated protein complexes at cell junctions. Plakin functions are evolutionarily conserved and are primarily involved in organizing the different components of the cytoskeleton by crosslinking them to each other and connecting them to the cell-matrix and cell adhesion complexes. They are also known to interact with signal transducers, serve as scaffolds for signaling...