Office for People With Developmental Disabilities

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Brain Metabolism Laboratory


Cheng-Xin Gong, MD, Head

The Brain Metabolism Laboratory focuses its research on neurofibrillary degeneration in Down syndrome and Alzheimer disease, and on the PI3K/PTEN-AKT signaling pathway in autism spectrum disorders (ASDs). Our studies may help identify new strategies for prevention and treatment of disorders that include neurodegeneration and developmental disabilities.

In our studies of the molecular mechanisms of neurofibrillary degeneration, we are mainly investigating 1) the detailed abnormal modifications of tau protein during neurofibrillary degeneration, with a focus on hyperphosphorylation and glycosylation, and 2) the mechanisms leading to these abnormal tau modifications, with a focus on tau protein kinases, phosphatases, protein O-GlcNAcylation and brain glucose metabolism. To study the involvement of the PI3K/PTEN-AKT signaling pathway in ASD, we are in the process of 1) investigating whether the PI3K/PTEN-AKT signaling pathway is dysregulated in autistic brains, by measuring the activities and levels of components of this pathway, including PTEN, PI(4,5)P and PI(3,4,5)P, PDK, AKT, GSK-3β, mTor, and S6K, and 2) studying the role of dysregulation of this pathway in the molecular mechanism of ASD in cell cultures and in experimental and transgenic animal models.