Summary of Diseases Affecting Human Learning and Memory.
Human Mental | Gene Product | Potential Targets | Mouse Model | References | |
---|---|---|---|---|---|
* - The design of the initial behavioral studies may have been flawed (78). | |||||
Retardation | Learning | LTP | |||
Syndrome | Defects | Change | |||
Angelman Syndrome | Ubiquitin E6 ligase | p53 (tumor suppressor), others? | Yes | Yes | (2) |
Neurofibromatosis | Neurofibromin 1 (NF1) | Ras/ERK Adenylyl cyclase Cytoskeleton | Yes | Yes | (11) |
Coffin-Lowry Syndrome | Ribosomal S6 Kinase 2 | CREB Ribosomal S6 protein | Yes | ? | (17) |
Down Syndrome (Trisomy 21) | DS critical locus: APP (Aβ) DYRK1A SOD1 KIRs | Dysregulation of genes on DS critical locus | Yes | Yes | (20) |
Rett Syndrome | Methyl-CpG Binding Protein 2 (MeCP2) | Lack of transcriptional repression | No | No | (33, 40) |
Rubinstein-Taybi Syndrome | CREB-Binding Protein | (CBP) CREB-mediated transcription | Yes | ? | (43, 47) |
Myotonic Dystrophy | DM1-Protein Kinase (DMPK) | Chromatin structure RNA binding proteins RNA interference | ? | ? | (49) |
FMR2 | FMR2 Protein | Unknown-gene expression | Yes | Yes | (61) |
FMR1 | FMR1 Protein | RNA targeting Protein synthesis Spine structure | Yes* | ? | (77) |
Williams Syndrome | WS critical locus: LIMK-1 Elastin Syntaxin 1A FKBP6 EIFH4 | Cytoskeleton Extracellular matrix Spine morphology | Yes | Yes | (72) |