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The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein...
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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...
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Elastic fiber contains the protein elastin along with lesser amounts of other proteins and glycoproteins. The main property of elastin is that it will return to its original shape after being stretched or compressed. Elastic fibers are prominent in elastic tissues found in skin and the elastic ligaments of the vertebral column.
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Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
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The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
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Related Experiment Video

Updated: May 3, 2026

Measuring Deformability and Red Cell Heterogeneity in Blood by Ektacytometry
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The Ehlers-Danlos syndrome.

Fransiska Malfait1, Anne De Paepe

  • 1Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.

Advances in Experimental Medicine and Biology
|January 21, 2014
PubMed
Summary

Ehlers-Danlos Syndromes (EDS) involve connective tissue fragility with varied severity. Recent research expands understanding of EDS pathogenesis beyond collagen to other extracellular matrix molecules and cellular processes.

Area of Science:

  • Genetics
  • Biochemistry
  • Dermatology

Background:

  • Ehlers-Danlos Syndromes (EDS) are a group of inherited connective tissue disorders.
  • Characterized by skin, ligament, joint, blood vessel, and organ fragility.
  • Clinical presentation ranges from mild hypermobility to severe, life-threatening complications.

Purpose of the Study:

  • To review the current understanding of Ehlers-Danlos Syndromes.
  • To highlight the importance of accurate subtype classification for management and genetic counseling.
  • To discuss recent advancements in identifying the molecular basis of EDS.

Main Methods:

  • Review of existing literature on Ehlers-Danlos Syndromes.
  • Analysis of the Villefranche classification system.

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  • Integration of findings from biochemical and molecular investigations of EDS variants.

    • Main Results:

    • The Villefranche classification identifies six EDS subtypes, primarily linked to collagen gene mutations.
    • New EDS variants implicate genetic defects in proteoglycans, tenascin-X, and intracellular trafficking pathways.
    • Understanding molecular pathogenesis extends beyond fibrillar collagens.

    Conclusions:

    • Accurate EDS subtype diagnosis is crucial for patient management and genetic counseling.
    • Expanding knowledge of EDS pathogenesis involves diverse extracellular matrix components and cellular functions.
    • Continued molecular research is vital for comprehensive EDS understanding and treatment.