A desmosome (/ˈdɛzməˌsoʊm/;[1][2] "binding body"), also known as a macula adherens (plural: maculae adherentes) (Latin for adhering spot), is a cell structure specialized for cell-to-cell adhesion. A type of junctional complex, they are localized spot-like adhesions randomly arranged on the lateral sides of plasma membranes. Desmosomes are one of the stronger cell-to-cell adhesion types and are found in tissue that experience intense mechanical stress, such as cardiac muscle tissue, bladder tissue, gastrointestinal mucosa, and epithelia.[3]
| Desmosome | |
|---|---|
 A desmosome. |
Arrhythmogenic cardiomyopathy[edit]
Mutations within the desmosome are the main cause of arrhythmogenic cardiomyopathy (ACM), a life-threatening disease caused by mutations usually in desmoglein 2, but sometimes in desmocollin 2. It often afflicts individuals between 20-50 years, and has been publicly known as a cause of death in young athletes, although the majority of sudden deaths do not occur in close connection to physical activity. The current incidence within the population is accepted as 1/10,000 however it is thought that 1/200 may have a mutation that may predispose to ACM.[8] Symptoms of ACM include fainting, shortness of breath, and heart palpitations and the condition is treated by implanting a small defibrillator device.
Blisters[edit]
Blistering diseases such as pemphigus vulgaris (PV) and pemphigus foliaceus (PF) are autoimmune diseases in which auto-antibodies target desmogleins. PV is caused by circulating autoantibodies (IgG) that target Dsg3 (Desmoglein 3) and sometimes Dsg1. PV is manifested by suprabasal acantholysis, or blisters in the mucous membrane and blisters in the epidermis. PF patients have autoantibodies that target Dsg1 with superficial blisters on the epidermis with no mucous membrane issues. Both disease result in a loss of keratinocyte adhesion. Pemphigus can also be caused by a bacterial infection: bullous impetigo is an infection caused by a staphylococcus bacterium that releases a toxin that cleaves the Dsg1 extracellular domain.
Similar symptoms occur with Hailey–Hailey disease, though the cause is not autoimmune but genetic. A haploinsufficiency of the ATP2C1 gene located on chromosome 3, which encodes the protein hSPCA1, causes malformation of the desmosomes. Desmoglein 1 haploinsufficiency leads to striate palmoplantar keratoderma, a disease which causes extreme thickening of the epidermis. Loss of desmoglein 4 leads to defective hair-follicle differentiation.[3]
Epidermolysis bullosa simplex is an epidermal blistering disease caused by mutations in genes coding for keratin 5 and 14, which attach to desmoplakin. This disease manifests as rupture of the basal epidermis when stress is applied. Ectodermal dysplasia or skin fragility syndrome is caused by plakophillin 1 mutations. This is manifested by detachment of intermediate filaments and desmoplakin from the desmosome.[4]
History[edit]
The desmosome was first discovered by Giulio Bizzozero, an Italian pathologist.[3] He named these "dense nodules" the "nodes of Bizzozero". In 1920, the term "desmosome" was originated by Josef Schaffer. The first combining form, desmo-, New Latin from Greek desmos, bond, carries meaning of binding or bonding things together. Combined with -some, which comes from soma, body, it thus makes a desmosome a "binding body".
https://en.wikipedia.org/wiki/Desmosome
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