title: Hypoxanthine-guanine phosphoribosyltransferase-deficiency produces aberrant neurite outgrowth of rodent neuroblastoma used to model the neurological disorder Lesch Nyhan syndrome.
abstract: Lesch Nyhan syndrome (LNS) manifests in bizarre and horrific neurological symptoms, the primary cause being a deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGPRT). How and why this enzyme deficiency leads to abnormal brain development is unknown. To investigate this phenomenon the present study was designed to examine if the growth of two HGPRT-deficient neuroblastomas, mouse N2aTG and rat B103-4C was different with respect to their corresponding control cell lines, N2a and B103. Data is provided showing that compared to control cell lines, HGPRT-deficient cells proliferated less and exhibited greater morphological complexity. If these abnormalities occur during neurogenesis of human HGPRT-deficient brain neurones, they could profoundly influence central nervous system development and thus, may form the aetiological basis for the symptoms of LNS.
authors.affiliation: Purine NeuroScience Laboratory, Chemical Pathology, Guy's King's and St. Thomas' Medical School, Kings College London, Guy's Hospital, London SE1 9RT, UK. g.connolly@ucl.ac.uk
authors.forename: G P
authors.initials: GP
authors.lastname: Connolly
mesh_terms: D000818:Animals; D001921:Brain / Q000002:abnormalities* / Q000201:enzymology* / Q000503:physiopathology; D002454:Cell Differentiation / Q000235:genetics*; D002455:Cell Division / Q000235:genetics; D048429:Cell Size / Q000235:genetics; D004195:Disease Models, Animal; D018507:Gene Expression Regulation, Developmental / Q000502:physiology*; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D051379:Mice; D016501:Neurites / Q000201:enzymology* / Q000473:pathology; D009447:Neuroblastoma; D011687:Purines / Q000378:metabolism; D051381:Rats; D014407:Tumor Cells, Cultured / Q000201:enzymology / Q000473:pathology
chemical_list: D011687:Purines; D007041:Hypoxanthine Phosphoribosyltransferase