title: Tuberin--a new molecular target in Alzheimer's disease?
abstract: Tuberous sclerosis complex (TSC) is a common genetic disorder in which affected individuals develop mental retardation, developmental brain defects and seizures. The TSC gene products, hamartin and tuberin, form a complex, of which tuberin is assumed to be the functional component being involved in a wide variety of different cellular processes. Here we report that tuberin protein levels are decreased in the frontal cortex of patients with Alzheimer's disease. In addition, tuberin levels are also decreased in Down syndrome brain samples positive for beta-amyloid plaques and neurofibrillary tangles. Analysis of NeuN revealed that this regulation is not a consequence of differences in the amount of postmitotic neurons. This first connection of tuberin to another common disease beside TSC stimulates new approaches to investigate the molecular development and to establish new therapeutic strategies.
authors.affiliation: Medical Genetics, Obstetrics and Gynecology, Medical University of Vienna, General Hospital, 1090, Währinger Gürtel 18-20, Vienna, 1090, Austria.
authors.forename: Rosa
authors.initials: R
authors.lastname: Ferrando-Miguel
authors.forename: Margit
authors.initials: M
authors.lastname: Rosner
authors.forename: Angelika
authors.initials: A
authors.lastname: Freilinger
authors.forename: Gert
authors.initials: G
authors.lastname: Lubec
authors.forename: Markus
authors.initials: M
authors.lastname: Hengstschläger
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000378:metabolism* / Q000473:pathology; D016229:Amyloid beta-Peptides / Q000378:metabolism; D000818:Animals; D034961:Antigens, Nuclear / Q000378:metabolism; D002540:Cerebral Cortex / Q000378:metabolism; D004314:Down Syndrome / Q000378:metabolism / Q000473:pathology; D016147:Genes, Tumor Suppressor; D006367:HeLa Cells; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000378:metabolism; D014402:Tuberous Sclerosis / Q000378:metabolism* / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000378:metabolism*
chemical_list: D016229:Amyloid beta-Peptides; D034961:Antigens, Nuclear; D009419:Nerve Tissue Proteins; D025521:Tumor Suppressor Proteins; C506808:neuronal nuclear antigen NeuN, human