Coatopathies: Genetic Disorders of Protein Coats

Area of Science:

• Cell biology
• Molecular biology
• Genetics

Background:

• Protein coats are vital supramolecular complexes on eukaryotic cell membranes.
• They mediate cargo sorting and transport carrier formation within the endomembrane system.
• Key examples include COPI, COPII, and various adaptor protein (AP) complexes.

Purpose of the Study:

• To review the fundamental properties of protein coats.
• To discuss the link between protein coat defects and human diseases (coatopathies).

Main Methods:

• Literature review of protein coat structure and function.
• Analysis of genetic mutations causing coatopathies.
• Summary of clinical manifestations associated with coatopathies.

Main Results:

• Protein coats (COPI, COPII, AP-1-5, retromer) are crucial for distinct endomembrane transport pathways.
• Defects in these coats disrupt cellular transport, affecting cell viability.
• Mutations in coat subunits lead to a spectrum of congenital diseases termed coatopathies.

Conclusions:

• Protein coats are indispensable for maintaining cellular homeostasis.
• Understanding protein coat function is critical for diagnosing and potentially treating coatopathies.
• Further research into coatopathies may reveal new therapeutic targets.