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Researchers identify enzyme involved in driving neuron differentiation

MD Anderson Research News September 26, 2025

A new study from Â鶹ӳ»­ MD Anderson Cancer Center identified an important role for the KMT2D protein in controlling the development of brain cells necessary for motor coordination and cognitive functions.

The study, published today in , was led by , assistant professor of Gastrointestinal Medical Oncology, , professor of Experimental Radiation Oncology, and , professor of Molecular and Cellular Oncology.

¡°These meaningful results show us the epigenetic mechanisms of the medulloblastoma suppressor KMT2D as a crucial component driving neuronal differentiation,¡± Lee said. 

KMT2D is one of the most frequently mutated enzymes in medulloblastoma, a type of brain tumor commonly found among young children. While KMT2D is known to suppress medulloblastoma tumor development in lab models, its role in neuron differentiation was unknown.  

By studying cerebellar granule cells ¨C the smallest and most numerous type of neuron in the brain ¨C the researchers were able to show that lab models without the Kmt2d gene had impaired cerebellar function and abnormal physiology, while those with KMT2D developed normally. 

Further analysis showed that KMT2D enhanced the expression of certain transcription factor genes at a specific time, allowing granule cells in the cerebellum to differentiate. This activation was an epigenetic change, meaning it did not change the underlying DNA sequence but altered the expression of those genes.  

The researchers identified the unique epigenetic mechanisms of KMT2D in neuronal cell differentiation, highlighting its therapeutic potential and furthering our understanding of multiple cerebellum-associated diseases. 

This study was supported by the National Cancer Institute (NCI). For a full list of collaborating authors, disclosures and research funding support, read the full paper at .