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Related Experiment Video

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Modified Roller Tube Method for Precisely Localized and Repetitive Intermittent Imaging During Long-term Culture of Brain Slices in an Enclosed System

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Exploring the pathological mechanisms underlying Cohen syndrome.

Fabrizio Vacca¹, Binnaz Yalcin², Muhammad Ansar^1,3

¹Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.

Frontiers in Neuroscience

|July 16, 2024

Summary

This summary is machine-generated.

Cohen Syndrome (CS) is a rare genetic disorder linked to VPS13B gene mutations. This review explores VPS13B protein function, its cellular roles, and how these relate to CS symptoms and animal models.

Keywords:

BLTP COH1 Golgi VPS13B lipid transfer protein membrane contact sites neurodevelopment

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Area of Science:

Genetics
Cell Biology
Biochemistry

Background:

Cohen Syndrome (CS) is a rare autosomal recessive disorder.
CS is caused by biallelic mutations in the VPS13B gene.
Clinical features include microcephaly, developmental delay, intellectual disability, neutropenia, and retinal degeneration.

Purpose of the Study:

Review experimental data on VPS13B protein function at the cellular level.
Discuss the potential link between VPS13B function and CS phenotype.
Review studies on animal models of CS.

Main Methods:

Review of experimental data on VPS13B cellular function.
Analysis of VPS13B's role in organelle architecture.
Examination of studies on CS-related animal models.

Main Results:

VPS13B is a peripheral membrane protein localized at the Golgi apparatus.
It is essential for maintaining Golgi apparatus architecture.
VPS13B is proposed to function as a lipid transport protein at organellar membrane contact sites.

Conclusions:

VPS13B mutations disrupt cellular functions, potentially explaining CS phenotypes.
Understanding VPS13B's role is crucial for CS research.
Animal models provide insights into CS pathogenesis and potential therapeutic strategies.