title: Alzheimer's disease shares gene expression aberrations with purinergic dysregulation of HPRT deficiency (Lesch-Nyhan disease).
abstract: Transcriptomic studies of murine D3 embryonic stem (ES) cells deficient in the purinergic biosynthetic function hypoxanthine guanine phosphoribosyltransferase (HPRT) and undergoing dopaminergic neuronal differentiation has demonstrated a marked shift from neuronal to glial gene expression and aberrant expression of multiple genes also known to be aberrantly expressed in Alzheimer's and other CNS disorders. Such genetic dysregulations may indicate some shared pathogenic metabolic mechanisms in diverse CNS diseases.
authors: Department of Neurology, Yale University School of Medicine, 300 George Street, New Haven, CT 06511, USA.
authors: Tae Hyuk
authors: TH
authors: Kang
authors: Department of Pediatrics, University of California San Diego School of Medicine, 9500 Gilman Drive, La Jolla, CA 92093-0634, USA. Electronic address: tfriedmann@ucsd.edu.
authors: Theodore
authors: T
authors: Friedmann
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D002454:Cell Differentiation; D002460:Cell Line; D059290:Dopaminergic Neurons / Q000166:cytology / Q000378:metabolism; D053595:Embryonic Stem Cells / Q000166:cytology / Q000378:metabolism; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007926:Lesch-Nyhan Syndrome / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D009457:Neuroglia / Q000166:cytology / Q000378:metabolism; D011687:Purines / Q000096:biosynthesis*; D059467:Transcriptome
chemical_list: D011687:Purines; D007041:Hypoxanthine Phosphoribosyltransferase
keywords: Alzheimer’s disease; HPRT; Lesch–Nyhan disease; Neurodegenerative disease; Neurodevelopment disease; Neurogenesis