Down syndrome: from understanding the neurobiology to therapy.
Down syndrome (DS) is the most common example of a neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of human chromosome 21 producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. Understanding the consequences of dosage imbalance attributable to trisomy 21 (T21) has accelerated because of recent advances in genome sequencing, comparative genome analysis, functional genome exploration, and the use of model organisms. This has led to new evidence-based therapeutic approaches to prevention or amelioration of T21 effects on brain structure and function (cognition) and has important implications for other areas of research on the neurogenomics of cognition and behavior.
Department of Pediatrics, Intellectual and Developmental Disabilities Research Center, University of Colorado Denver, Aurora, Colorado 80045, USA.
Katheleen
K
Gardiner
Yann
Y
Herault
Ira T
IT
Lott
Stylianos E
SE
Antonarakis
Roger H
RH
Reeves
Mara
M
Dierssen
D000818:Animals; D004195:Disease Models, Animal; D004314:Down Syndrome / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology*