Desmoplakin

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Desmoplakin[edit | edit source]

Diagram of a desmosome, showing the location of desmoplakin.

Desmoplakin is a critical protein component of the desmosome, a type of cell junction that provides strong adhesion between cells in tissues that experience mechanical stress, such as the epidermis and cardiac muscle. Desmoplakin plays a vital role in maintaining the structural integrity of tissues by anchoring intermediate filaments to the desmosomal plaque.

Structure[edit | edit source]

Desmoplakin is a large protein that consists of several domains, each contributing to its function in cell adhesion. The protein is composed of a central rod domain flanked by globular head and tail domains. The head domain interacts with other desmosomal proteins, such as plakoglobin and plakophilin, while the tail domain binds to intermediate filaments like keratin in epithelial cells and desmin in cardiac muscle cells.

Function[edit | edit source]

Desmoplakin is essential for the assembly and stability of desmosomes. It acts as a linker between the desmosomal cadherins, such as desmoglein and desmocollin, and the intermediate filament network. This linkage is crucial for the mechanical resilience of tissues, allowing them to withstand stretching and shearing forces.

Clinical Significance[edit | edit source]

Mutations in the gene encoding desmoplakin, DSP, can lead to a variety of genetic disorders. These include arrhythmogenic right ventricular cardiomyopathy (ARVC), a condition characterized by the replacement of cardiac muscle with fibrous and fatty tissue, leading to heart failure and arrhythmias. Desmoplakin mutations can also cause skin disorders such as palmoplantar keratoderma and woolly hair syndrome.

Related Proteins[edit | edit source]

Desmoplakin is part of the plakin family of proteins, which also includes plectin, envoplakin, and periplakin. These proteins share structural similarities and are involved in linking cytoskeletal elements to cell junctions.

Research and Future Directions[edit | edit source]

Ongoing research aims to further elucidate the molecular mechanisms by which desmoplakin and other desmosomal components contribute to cell adhesion and tissue integrity. Understanding these processes is crucial for developing therapies for desmosome-related diseases.

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Contributors: Prab R. Tumpati, MD