Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease

Annals of Neurology

Volumn 76, Issue 1, 2014, Pages 95-107

  Göttle, Martin ^a   Prudente, Cecilia N ^a   Fu, Rong ^a   Sutcliffe, Diane ^a   Pang, Hong ^a   Cooper, Deborah ^a   Veledar, Emir ^b   Glass, Jonathan D ^a   Gearing, Marla ^a   Visser, Jasper E ^c,d   Jinnah, H A ^a,e  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b EMORY UNIVERSITY   (United States)

^c RADBOUD UNIVERSITY   (Netherlands)

^d AMPHIA HOSPITAL   (Netherlands)

^e EMORY UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ANIMAL CELL; ANIMAL CELL CULTURE; ANIMAL EXPERIMENT; ARTICLE; AUTOPSY; BRAIN REGION; CONTROLLED STUDY; DOPAMINE METABOLISM; DOPAMINERGIC NERVE CELL; FLUORESCENCE ACTIVATED CELL SORTING; HISTOPATHOLOGY; HUMAN; HUMAN EXPERIMENT; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOREACTIVITY; KNOCKOUT MOUSE; LESCH NYHAN SYNDROME; MALE; MESENCEPHALON; MOUSE; NERVE CELL; NEUROBLASTOMA; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SUBSTANTIA NIGRA;

ADULT; AGED; AGED, 80 AND OVER; ANIMALS; CELL LINE, TUMOR; CHILD; CHILD, PRESCHOOL; CORPUS STRIATUM; DISEASE MODELS, ANIMAL; DOPAMINE; DOPAMINERGIC NEURONS; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MALE; MESENCEPHALON; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MIDDLE AGED; PHENOTYPE; SUBSTANTIA NIGRA; TYROSINE 3-MONOOXYGENASE; YOUNG ADULT;

EID: 84904786962     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24191     Document Type: Article

References (52)

1. Jinnah HA, Visser JE, Harris JC, et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain 2006; 129: 1201-1217.
2. Schretlen DS, Ward J, Meyer SM, et al. Behavioral aspects of Lesch-Nyhan disease and its variants. Dev Med Child Neurol 2005; 47: 673-677.
3. Schretlen DS, Harris JC, Park KS, et al. Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency. J Int Neuropsychol Soc 2001; 7: 805-812.
4. Jinnah HA, Friedmann T,. Lesch-Nyhan disease and its variants. In:, Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York, NY: McGraw-Hill, 2001: 2537-2570.
5. Fu R, Ceballos-Picot I, Torres RJ, et al. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain 2014; 137 (pt 5): 1282-1303.
6. Jinnah HA, DeGregorio L, Harris JC, et al. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res 2000; 463: 309-326.
7. Visser JE, Baer PR, Jinnah HA,. Lesch-Nyhan syndrome and the basal ganglia. Brain Res Rev 2000; 32: 449-475.
8. Baumeister AA, Frye GD,. The biochemical basis of the behavioral disorder in the Lesch-Nyhan syndrome. Neurosci Biobehav Rev 1985; 9: 169-178.
9. Lloyd KG, Hornykiewicz O, Davidson L, et al. Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. N Engl J Med 1981; 305: 1106-1111.
10. Saito Y, Takashima S,. Neurotransmitter changes in the pathophysiology of Lesch-Nyhan syndrome. Brain Dev 2000; 22 (suppl 1): S122-S131.
11. Saito Y, Ito M, Hanaoka S, et al. Dopamine receptor upregulation in Lesch-Nyhan syndrome: a postmortem study. Neuropediatrics 1999; 30: 66-71.
12. Wong DF, Harris JC, Naidu S, et al. Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proc Natl Acad Sci U S A 1996; 93: 5539-5543.
13. Ernst M, Zametkin AJ, Matochik JA, et al. Presynaptic dopaminergic deficits in Lesch-Nyhan disease. N Engl J Med 1996; 334: 1568-1572.
14. Del Bigio MR, Halliday WC,. Multifocal atrophy of cerebellar internal granular neurons in Lesch-Nyhan disease: case reports and review. J Neuropathol Exp Neurol 2007; 66: 346-353.
15. Jinnah HA,. Lesch-Nyhan disease: from mechanism to model and back again. Dis Model Mech 2009; 2: 116-121.
16. Jinnah HA, Langlais PJ, Friedmann T,. Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome. J Pharmacol Exp Ther 1992; 263: 596-607.
17. Jinnah HA, Wojcik BE, Hunt MA, et al. Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease. J Neurosci 1994; 14: 1164-1175.
18. Jinnah HA, Jones MD, Wojcik BE, et al. Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease. J Neurochem 1999; 72: 225-229.
19. Egami K, Yitta S, Kasim S, et al. Basal ganglia dopamine loss due to defect in purine recycling. Neurobiol Dis 2007; 26: 396-407.
20. Kang TH, Park Y, Bader JS, Friedmann T,. The housekeeping gene hypoxanthine guanine phosphoribosyltransferase (HPRT) regulates multiple developmental and metabolic pathways of murine embryonic stem cell neuronal differentiation. PLoS One 2013; 8: e74967.
21. Lewers JC, Ceballos-Picot I, Shirley TL, et al. Consequences of impaired purine recycling in dopaminergic neurons. Neuroscience 2008; 152: 761-772.
22. Yeh J, Zheng S, Howard BD,. Impaired differentiation of HPRT-deficient dopaminergic neurons: a possible mechanism underlying neuronal dysfunction in Lesch-Nyhan syndrome. J Neurosci Res 1998; 53: 78-85.
23. Bitler CM, Howard BD,. Dopamine metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient variants of PC12 cells. J Neurochem 1986; 47: 107-112.
24. Goettle M, Burhenne H, Sutcliffe D, Jinnah HA,. Purine metabolism during neuronal differentiation: the relevance of purine synthesis and recycling. J Neurochem 2013; 127: 805-818.
25. Ceballos-Picot I, Mockel L, Potier MC, et al. Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis. Hum Mol Genet 2009; 18: 2317-2327.
26. Choi HK, Won LA, Kontur PJ, et al. Immortalization of embryonic mesencephalic dopaminergic neurons by somatic cell fusion. Brain Res 1991; 552: 67-76.
27. Bazelon M, Fenichel GM, Randall J,. Studies on neuromelanin. I. A melanin system in the human adult brainstem. Neurology 1967; 17: 512-519.
28. Fenichel GM, Bazelon M,. Studies on neuromelanin. II. Melanin in the brainstems of infants and children. Neurology 1968; 18: 817-820.
29. Zecca L, Fariello R, Riederer P, et al. The absolute concentration of nigral neuromelanin, assayed by a new sensitive method, increases throughout the life and is dramatically decreased in Parkinson's disease. FEBS Lett 2002; 510: 216-220.
30. Fedorow H, Halliday GM, Rickert CH, et al. Evidence for specific phases in the development of human neuromelanin. Neurobiol Aging 2006; 27: 506-512.
31. Hyland K, Kasim S, Egami K, et al. Tetrahydrobiopterin and brain dopamine loss in a genetic mouse model of Lesch-Nyhan disease. J Inherit Metab Dis 2004; 27: 165-178.
32. Fujimoto WY, Subak-Sharpe JH, Seegmiller JE,. Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures. Proc Natl Acad Sci U S A 1971; 68: 1516-1519.
33. Nyhan WL,. Dopamine function in Lesch-Nyhan disease. Environ Health Perspect 2000; 108: 409-411.
34. Peterson DA, Sejnowski TJ, Poizner H,. Convergent evidence for abnormal striatal synaptic plasticity in dystonia. Neurobiol Dis 2010; 37: 558-573.
35. Perlmutter JS, Mink JW,. Dysfunction of dopaminergic pathways in dystonia. Adv Neurol 2004; 94: 163-170.
36. Moy SS, Criswell HE, Breese GR,. Differential effects of bilateral dopamine depletion in neonatal and adult rats. Neurosci Biobehav Rev 1997; 21: 425-435.
37. Breese GR, Criswell HE, Duncan GE, Mueller RA,. Dopamine deficiency in self-injurious behavior. Psychopharmacol Bull 1989; 25: 353-357.
38. Taira T, Kobayashi T, Hori T,. Disappearance of self-mutilating behavior in a patient with Lesch-Nyhan syndrome after bilateral chronic stimulation of the globus pallidus interna. J Neurosurg 2003; 98: 414-416.
39. Schretlen DJ, Varvaris M, Ho TE, et al. Cross-sectional analyses of regional brain volume abnormalities in Lesch-Nyhan disease and its variants. Lancet Neurol 2013; 12: 1151-1158.
40. Visser JE, Schretlen DJ, Bloem BR, Jinnah HA,. Levodopa is not a useful treatment for Lesch-Nyhan disease. Mov Disord 2011; 26: 746-749.
41. Kang TH, Guibinga GH, Jinnah HA, Friedmann T,. HPRT deficiency coordinately dysregulates canonical Wnt and presenilin-1 signaling: a neuro-developmental regulatory role for a housekeeping gene? PLoS One 2011; 6: e16572.
42. Guibinga GH, Hrustanovic G, Bouic K, et al. MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: clues for Lesch-Nyhan disease? Hum Mol Genet 2011; 21: 609-622.
43. Guibinga GH, Hsu S, Friedmann T,. Deficiency of the housekeeping gene hypoxanthine-guanine phosphoribosyltransferase (HPRT) dysregulates neurogenesis. Mol Ther 2010; 18: 54-62.
44. Money KM, Stanwood GD,. Developmental origins of brain disorders: roles for dopamine. Front Cell Neurosci 2013; 7: 260.
45. Hirsch E, Graybiel AM, Agid Y,. Melanized dopaminergic neurons are differentially susceptible to degeneration in Parkinson's disease. Nature 1988; 334: 345-348.
46. Alavian KN, Scholz C, Simon HH,. Transcriptional regulation of mesencephalic dopaminergic neurons: the full circle of life and death. Mov Disord 2008; 23: 319-328.
47. Jiang C, Wan X, He Y, et al. Age-dependent dopaminergic dysfunction in Nurr1 knockout mice. Exp Neurol 2005; 191: 154-162.
48. Witta J, Baffi J, Palkovits M, et al. Nigrostriatal innervation is preserved in Nurr1-null mice, although dopaminergic neuron precursors are arrested from terminal differentiation. Mol Brain Res 2000; 84: 67-78.
49. Furukawa Y, Nygaard TG, Gutlich M, et al. Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia. Neurology 1999; 53: 1032-1041.
50. Furukawa Y, Kapatos G, Haycock JW, et al. Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia. Ann Neurol 2002; 51: 637-641.
51. Grotzsch H, Pizzolato GP, Ghika J, et al. Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14. Neurology 2002; 58: 1839-1842.
52. Hyland K, Surtees RAH, Rodeck C, Clayton PT,. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology 1992; 42: 1980-1988.