The molecular function of VPS13B, the gene mutated in Cohen Syndrome, remains poorly understood. However, previous work suggests that mutations in VPS13B reduce the amount of certain types of fat molecules in patient cells. These fat molecules are essential for cell structure and function, as well as for the formation of tissues and organs during development. A reduced amount of these molecules may cause the clinical features observed in Cohen Syndrome patients.
To address this, a new research project led by Jens Luders at the Institute for Research in Biomedicine (IRB Barcelona) is investigating which aspect of lipid handling—uptake, transport, or storage—is defective in Cohen Syndrome cells. The project aims to repair this defect by introducing variants of intact VPS13B into these cells. Because the VPS13B gene is very large, researchers are also testing smaller versions of the gene, which are easier to work with.
The research team will also attempt to repair the loss of VPS13B in two additional models: retinal tissue grown in a culture dish derived from patient cells, and zebrafish embryos lacking VPS13B. These zebrafish models recapitulate several Cohen Syndrome features, including brain and eye defects. The ultimate goal of the project is to identify VPS13B variants that can provide the crucial functions of the protein in cells that lack it.
The results of this study could be highly significant for the development of future gene therapies for Cohen Syndrome. By understanding how to restore lipid handling in affected cells, researchers hope to mitigate or even reverse some of the developmental and neurological symptoms associated with the disorder.
Medical Disclaimer: This information is for educational purposes only and does not constitute medical advice. Genetic testing and clinical management should be performed by qualified healthcare professionals.