Alzheimer's disease shares gene expression aberrations with purinergic dysregulation of HPRT deficiency (Lesch-Nyhan disease)

被引：14
|
作者：
Kang, Tae Hyuk [1 ]
Friedmann, Theodore [2 ]
机构：
[1] Yale Univ, Sch Med, Dept Neurol, New Haven, CT 06511 USA
[2] Univ Calif San Diego, Sch Med, Dept Pediat, La Jolla, CA 92093 USA
来源：
NEUROSCIENCE LETTERS | 2015年 / 590卷
基金：
美国国家卫生研究院;
关键词：
Neurogenesis; Neurodevelopment disease; Neurodegenerative disease; Alzheimer's disease; HPRT; Lesch-Nyhan disease; NEURONAL DIFFERENTIATION; RECEPTORS; GROWTH; NUCLEOTIDE; PATHWAYS; ACTIVATION; COMPLEX; PROTEIN; MODEL;
D O I：
10.1016/j.neulet.2015.01.042
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
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. (C) 2015 Elsevier Ireland Ltd. All rights reserved.
引用
收藏
页码：35 / 39
页数：5
相关论文
共 50 条
  • [11] Dopaminergic (mal-)development in absence of HPRT in Lesch-Nyhan disease
    Visser, J. E.
    Witteveen, J. S.
    Van Boekel, W.
    Jinnah, H. A.
    Martens, G. J. M.
    Kolk, S. M.
    MOVEMENT DISORDERS, 2014, 29 : S35 - S36
  • [12] Adenosine transport in HPRT deficient lymphocytes from Lesch-Nyhan disease patients
    Torres, RJ
    DeAntonio, I
    Prior, C
    Puig, JG
    NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2004, 23 (8-9): : 1193 - 1196
  • [13] Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease)
    Bertelli, Matteo
    Cecchin, Stefano
    Lapucci, Cristina
    Jacomelli, Gabriella
    Jinnah, Hyder A.
    Pandolfo, Massimo
    Micheli, Vanna
    CLINICA CHIMICA ACTA, 2006, 373 (1-2) : 104 - 107
  • [14] Molecular Characterization and Structure Analysis of Hprt in a Chinese Patient with Lesch-Nyhan Disease
    Jian, Wei-Xia
    Peng, Wen-Hui
    Li, Hai-Ling
    Feng, Qi-Wen
    Wang, Wei-Xing
    Su, Qing
    NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2013, 32 (04): : 189 - 195
  • [15] DOPAMINE DEFICIENCY IN A GENETIC MOUSE MODEL OF LESCH-NYHAN DISEASE
    JINNAH, HA
    WOJCIK, BE
    HUNT, M
    NARANG, N
    LEE, KY
    GOLDSTEIN, M
    WAMSLEY, JK
    LANGLAIS, PJ
    FRIEDMANN, T
    JOURNAL OF NEUROSCIENCE, 1994, 14 (03): : 1164 - 1175
  • [16] Lesch-Nyhan disease in two families from Chiloe Island with mutations in the HPRT1 gene
    Khue Vu Nguyen
    Silva, Sebastian
    Troncoso, Monica
    Naviaux, Robert K.
    Nyhan, William L.
    NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2017, 36 (07): : 452 - 462
  • [17] DOES THE BEHAVIOURAL PHENOTYPE OF LESCH-NYHAN DISEASE/LESCH NYHAN VARIANT DISORDER CORRELATE BEST WITH HPRT OR GPRT ENZYME ACTIVITY?
    Harris, J. C.
    Ward, R.
    Callon, W.
    Fu, R.
    Jinnah, H.
    Schretlen, D.
    JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2015, 59 (09) : 792 - 792
  • [18] Lesch-Nyhan Syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA
    Nguyen, Khue Vu
    Naviaux, Robert K.
    Paik, Kacie K.
    Nyhan, William L.
    MOLECULAR GENETICS AND METABOLISM, 2012, 106 (04) : 498 - 501
  • [19] Dysregulation of dopaminergic markers in peripheral cells from Lesch-Nyhan disease patients
    Kelly, M. K.
    Mockel, L. M.
    Boutaud, L. B.
    Ceballos-Picot, I. C. P.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 135 - 135
  • [20] Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein
    Khue Vu Nguyen
    Naviaux, Robert K.
    Nyhan, William L.
    NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2017, 36 (02): : 151 - 157
12345