The role of Mnbk in DS brain development and aging

Principal Investigator: Wayne Silverman

 This collaborative study (headed by Jerzy Wegiel, D.V.D., Ph.D. of the New York State Institute for Basic Research in Developmental Disabilities) focuses on the role of overexpression of Mnbk/Dyrk1A gene product in the development of individuals with Down syndrome. This project will employ molecular and morphometric procedures to examine quantitatively specific brain structures primarily within memory and motor systems. Morphometric & gene expression findings wil be related to age, severity of mental retardation, severity of dementia (when present), etc. Findings for cases w/ Down syndrome (n=44) will be contrasted with those for normal age-matched controls (n=44), w/ Alzheimer's disease (n=30), & Parkinson disease (n=30). All cases will be examined post-mortem only, w/ tissue and clinical records obtained from brain banks after individual identifiers have been stripped. All tissue examination will take place at the New York State Institute for Basic Research, & that institution will receive all materials from cooperating brain banks. The only involvement of KKI/JHSM will be Dr. Wayne Silverman's participation as a co-investigator responsible for clinical case review to ascertain level of MR and/or dementia, and for his contributions to data analysis and presentations of findings. (This study has been ongoing since 01/01/04. Dr. Silverman recently joined the staff of the Kennedy Krieger Institute (01/09/06), & will resume his role on this project when IRB approvals are obtained & a subcontract is established.)