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The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies
Prajna Udupa1, Debasish Kumar Ghosh1
1Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Insights
Intraflagellar transport 52 (IFT52) is vital for ciliary transport and function. Mutations in IFT52 cause ciliopathies, highlighting its role in cellular health and disease.
Area of Science:
- Cell Biology
- Genetics
Background:
- Ciliary transport is essential for eukaryotic cell function, relying on multiprotein intraflagellar transport (IFT) complexes.
- Intraflagellar transport 52 (IFT52) is a key component of the IFT-B complex, crucial for cargo movement within cilia.
Purpose of the Study:
- To provide an overview of IFT52's role in ciliary transport mechanisms.
- To describe IFT52 mutations and their link to various ciliopathies and associated clinical features.
Main Methods:
- Review of existing literature on IFT52 function and mutations.
- Analysis of IFT52's role in the IFT-B complex and ciliary component recycling.
Main Results:
- IFT52 stabilizes IFT-B subcomplexes, regulating ciliary functions like signal transduction.
- IFT52 mutations disrupt ciliary trafficking, leading to diverse ciliopathies with skeletal, retinal, respiratory, and neurological issues.
Conclusions:
- IFT52 is critical for maintaining ciliary integrity and function.
- IFT52 mutations are implicated in a spectrum of ciliopathies, making IFT52 a potential diagnostic biomarker.
Abstract:
Ciliary transport in eukaryotic cells is an intricate and conserved process involving the coordinated assembly and functioning of a multiprotein intraflagellar transport (IFT) complex. Among the various IFT proteins, intraflagellar transport 52 (IFT52) plays a crucial role in ciliary transport and is implicated in various ciliopathies. IFT52 is a core component of the IFT-B complex that facilitates movement of cargoes along the ciliary axoneme. Stable binding of the IFT-B1 and IFT-B2 subcomplexes by IFT52 in the IFT-B complex regulates recycling of ciliary components and maintenance of ciliary functions such as signal transduction and molecular movement. Mutations in the IFT52 gene can disrupt ciliary trafficking, resulting in dysfunctional cilia and affecting cellular processes in ciliopathies. Such ciliopathies caused by IFT52 mutations exhibit a wide range of clinical features, including skeletal developmental abnormalities, retinal degeneration, respiratory failure and neurological abnormalities in affected individuals. Therefore, IFT52 serves as a promising biomarker for the diagnosis of various ciliopathies, including short-rib thoracic dysplasia 16 with or without polydactyly. Here, we provide an overview of the IFT52-mediated molecular mechanisms underlying ciliary transport and describe the IFT52 mutations that cause different disorders associated with cilia dysfunction.
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