Office for People With Developmental Disabilities

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Molecular Regulation Laboratory

07/12/12

Yu-Wen Hwang, PhD, Head

[email protected]

The Molecular Regulation Laboratory is working to elucidate the molecular basis of Down syndrome (DS), especially with regard to the intellectual disability and learning deficits associated with the disease. Our current research is concentrated on the protein kinase Dyrk1A (dual-specificity tyrosine phosphorylation regulated kinase 1A), whose gene is localized in the DS critical region of human chromosome 21. The Dyrk1A gene is present in triplicate, and its expression is elevated, in DS as well as in the DS mouse model Ts65Dn, which carries partial trisomy 16 (syntenic with human chromosome 21). This gene-dosage over-expression of Dyrk1A expression has been associated with neurodevelopmental delays, spatial learning deficits, cognitive impairments, and motor abnormalities in DS mouse models. This gene is the primary candidate implicated in the learning and memory impairments in DS.

Our research program aims to:

  • Identify the mechanism by which Dyrk1A regulates the assembly of endocytic complexes.
  • Determine how the process of endocytic complex assembly is affected by over-expression of Dyrk1A.
  • Investigate the possibility of using Dyrk1A inhibitors as therapeutic agents for DS intervention.