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 β-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.
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Ferrando-Miguel, R., Rosner, M., Freilinger, A. et al. Tuberin – A New Molecular Target in Alzheimer’s Disease?. Neurochem Res 30, 1413–1419 (2005). https://doi.org/10.1007/s11064-005-8511-y
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DOI: https://doi.org/10.1007/s11064-005-8511-y