L-2-hydroxyglutarate impairs neuronal differentiation through epigenetic activation of MYC expression
Wen Gu·Ralph J. DeBerardinis·H S Trivedi·Brandon Faubert·Samuel K. McBrayer·Ashley Solmonson·Jordan Franklin·Thomas P. Mathews·Alpaslan Tasdogan·Yuannyu Zhang·Lauren G. Zacharias·Aundrea K. Westfall·Ilya Bezprozvanny·Sunil Sudarshan·Hua Zhang·Feng Cai·Ashley Rowe·Yi Xiao·Xun Wang·Zheng Wu·Jessica Sudderth·Ling Cai·Bushra Afroze
High levels of L- and D-2-hydroxyglutarate (2HG), the reduced forms of α-ketoglutarate (αKG), are implicated in neurodevelopmental disorders and cancer by modulating αKG-dependent dioxygenases involved in histone, DNA and RNA demethylation. L-2HG dehydrogenase (L2HGDH) deficiency, a rare autosomal recessive inborn error of metabolism associated with systemic L-2HG elevation, causes progressive neurological disability and increased brain tumor risk of unclear mechanism. Using an isogenic, patient
