Is there a treatment for gene mutation associated with rare neurological disorder?

Published On 2024-04-10 02:30 GMT | Update On 2024-04-10 09:39 GMT

A new UCLA-led research suggested that mutation in a protein regulating natural killer (NK) cells' function is at the root of immune deficiency in some people with a rare genetic condition characterized by cognitive and developmental delay, seizures, and other manifestations.

The findings, published in the journal Nature Immunology, were the first to observe that these people are immune deficient and point to lipid supplementation with oleic acid as a potential therapy.

“Human NK cell deficiencies are rare but lead to a dramatic increase in vulnerability to viral infections. Clinically, we still don’t know a lot of genes that can result in NK cell deficiency when mutated. Our findings identify NK cell defects associated with MEF2C insufficiency syndrome that might explain the frequent infections that some of these patients experience,” said first author Joey Li of the UCLA-Caltech Medical Scientist Training Program.

Using CRISPR gene editing, the researchers screened 31 genes in human NK cells and found that MEF2C was a crucial driver for multiple functions in those cells. They also found that oleic acid enhanced the protective activity in cells from MEF2C insufficient people and normal NK cells. A loss or mutation in a gene called MEF2C disrupts the ability of NK cells to take up chemical compounds called lipids that are used to fuel crucial functions such as tumour cell killing and creating inflammatory molecules. They found that people with the rare neurological syndrome (MCHS) who have the mutation in this gene are particularly vulnerable to viral infections.

“Harnessing lipid metabolism to engineer better NK cell therapies may have promise in the realm of cancer immunotherapy, as previous studies have found that tumour-infiltrating immune cells can become metabolically impaired,” Li said. “In the realm of NK cell immunodeficiencies, we have noted a trend that multiple neurodevelopment disorders seem to be accompanied by NK cell defects. But more research is needed to solidify a link between NK cell function and neurodevelopmental disorders,” added Li.

Reference: Joey H. Li, Adalia Zhou, Cassidy D. Lee, Siya N. Shah, Jeong Hyun Ji, Vignesh Senthilkumar, Eddie T. Padilla, Andréa B. Ball, Qinyan Feng, Christian G. Bustillos, Luke Riggan, Alain Greige, Ajit S. Divakaruni, Fran Annese, Jessica Cooley-Coleman, Steven A. Skinner, Christopher W. Cowan & Timothy E. O’Sullivan; MEF2C regulates NK cell effector functions through control of lipid metabolism; Journal: Nature Immunology; DOI: 10.1038/s41590-024-01811-2

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Article Source : Nature

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Anshika Mishra

Anshika Mishra is a dedicated scholar pursuing a Masters in Biotechnology, driven by a profound passion for exploring the intersection of science and healthcare. Having embarked on this academic journey with a passion to make meaningful contributions to the medical field, Anshika joined Medical Dialogues in 2023 to further delve into the realms of healthcare journalism.

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Is there a treatment for gene mutation associated with rare neurological disorder?

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