In silico sequence- and structure-based evaluation of variants in candidate genes. Credit score: Nature Communications (2024). DOI: 10.1038/s41467-024-54911-w
Current analysis led by UTHealth Houston scientists has uncovered two genes related to variants linked to epilepsy, which confirmed particular traits that make them promising diagnostic biomarkers.
The research is printed in Nature Communications.
Led by Dennis Lal, Ph.D., director of the Middle for Neurogenetics and affiliate professor of neurology at McGovern Medical Faculty at UTHealth Houston, the analysis group analyzed knowledge from 1,386 human mind tissues for somatic variants within the genes of people present process epilepsy surgical procedure. Somatic variants are DNA adjustments that happen after conception and might solely be recognized within the mind tissue.
Based on the Facilities for Illness Management and Prevention (CDC), epilepsy impacts roughly 3.4 million individuals in the USA, and 1 in 3 sufferers wrestle with drug-resistant types of the situation. By linking epilepsy to particular genetic mutations, the analysis provides a brand new framework for understanding the dysfunction and creating therapies that tackle its root causes.
Essentially the most in depth research of its sort, the analysis recognized two novel genes, DYRK1A and EGFR, and their genetic mutations linked to epileptic mind lesions.
“Discovering these genes not only helps us better understand the biology behind epilepsy but also reveals specific traits in tissues, making them valuable tools for diagnosing the condition,” Lal mentioned.
Via the analysis, Lal and his group confirmed 4 well-established gene-disease associations and supplied proof for eight extra. As soon as mind tissue testing after surgical procedure turns into clinically accessible exterior of analysis, these findings might provide long-awaited solutions about what causes the situation of those sufferers with a drug-resistant type of the illness, he mentioned.
The undertaking additionally revealed that many genes recognized with related variants work together with organic pathways focused by FDA-approved most cancers medication. Whereas epileptic lesions share genetic similarities with tumors, they differ in a number of key methods. Neurons—the affected cells in epilepsy—don’t replicate like most cancers cells, opening alternatives to repurpose present most cancers medication for epilepsy remedy.
“For those with epilepsy, their caregivers, and health care providers, our research represents a step closer to understanding epilepsy at its most fundamental level while improving patients’ quality of life,” Lal mentioned.
Co-authors embody Christian Bosselman, MD, of Universitätsklinikum Tübingen; Costin Leu, Ph.D., and Tobias Brünger, Ph.D., of UTHealth Houston; Lucas Hoffman, MD, Ph.D., of the College of Washington; Katja Kobow Ph.D., of Universitätsklinikum Erlangen; Imad Najm MD, of the Cleveland Clinic; and Ingmar Blumcke, MD, of Universitätsklinikum Erlangen—Institute of Neuropathology.
Extra data:
Christian M. Boßelmann et al, Evaluation of 1386 epileptogenic mind lesions reveals affiliation with DYRK1A and EGFR, Nature Communications (2024). DOI: 10.1038/s41467-024-54911-w
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