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Rab GTPases, intracellular traffic and disease
Miguel C Seabra1, Emilie H Mules, Alistair N Hume
1Cell and Molecular Biology, Division of Biomedical Sciences, Faculty of Medicine, Imperial College, Exhibition Road, London, UK SW7 2AZ. m.seabra@ic.ac.uk
Trends in Molecular Medicine
|February 14, 2002
Summary
Rab GTPases regulate vesicular transport, and their dysfunction is linked to diseases like Griscelli syndrome. Altered Rab function also impacts infectious diseases, with more Rab genes potentially revealing further disease connections.
Area of Science:
- Cell Biology
- Genetics
- Molecular Biology
Background:
- Vesicular transport, mediated by Rab GTPases, is crucial for protein traffic in secretory and endocytic pathways.
- Dysfunction of Rab GTPases and their regulators is associated with various human genetic disorders.
Purpose of the Study:
- To highlight the critical role of Rab GTPases in vesicular transport.
- To review the link between Rab GTPase dysfunction and human diseases.
- To explore the involvement of Rabs in infectious diseases and their potential for future discoveries.
Main Methods:
- Review of recent studies on Rab GTPases and their roles in cellular processes.
- Analysis of genetic mutations affecting Rab proteins and associated human diseases.
- Examination of the impact of intracellular microorganisms on endocytic Rab function.
Main Results:
- Mutations in Rab27a cause Griscelli syndrome, affecting melanosome transport and T-cell activity.
- Defects in general Rab regulators lead to choroideremia, Hermansky-Pudlak syndrome, and X-linked mental retardation.
- Intracellular pathogens manipulate endocytic Rab function for host defense or pathogen survival.
Conclusions:
- Rab GTPases are vital regulators of vesicular transport with significant implications for human health.
- Rab dysfunction is a causative factor in several genetic and infectious diseases.
- The large number of RAB genes suggests a broad scope for future research linking Rab function to disease.