The exocyst complex in neurological disorders.

Area of Science:

• Cell Biology
• Molecular Biology
• Genetics

Background:

• Exocytosis is a fundamental cellular process involving vesicle fusion with the plasma membrane.
• The exocyst complex, an octameric protein assembly, regulates SNARE complex formation for vesicle tethering and fusion.
• The exocyst is involved in numerous cellular processes, including membrane trafficking, cell polarity, and migration.

Purpose of the Study:

• To review mutations and variants in exocyst subunits linked to human diseases.
• To discuss the implications of exocyst dysfunction in various disorders.
• To highlight the exocyst's role in cell viability and development.

Main Methods:

• Literature review of studies on exocyst function and human disease associations.
• Analysis of genetic mutations and variants in exocyst subunits.
• Synthesis of information on the phenotypic consequences of exocyst dysfunction.

Main Results:

• Mutations in exocyst subunits are implicated in human diseases, primarily neurodevelopmental disorders and ciliopathies.
• These diseases often present with developmental delay, intellectual disability, and brain abnormalities.
• Exocyst subunits are essential for cell viability.

Conclusions:

• Exocyst complex dysfunction contributes to a range of human diseases, particularly those affecting development.
• Understanding exocyst variants is crucial for diagnosing and potentially treating associated disorders.
• Further research into exocyst roles may uncover links to other pathologies.