Altered tryptophan metabolism in the brain of Cystatin B-deficient mice: A model system for progressive myoclonus epilepsy

Epilepsia

Volumn 47, Issue 10, 2006, Pages 1650-1654

  Vaarmann, Annika ^a   Kaasik, Allen ^a   Zharkovsky, Alexander ^a  

^a UNIVERSITY OF TARTU   (Estonia)

Author keywords

Cerebellum; EPM1; HPLC; Progressive myoclonus epilepsy; Serotonin

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; CYSTATIN B; SEROTONIN; TRYPTOPHAN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ATAXIA; BRAIN CORTEX; BRAIN LEVEL; BRAIN TISSUE; CEREBELLUM; CONTROLLED STUDY; ELECTROCHEMICAL DETECTION; FEMALE; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; MALE; MOUSE; MYOCLONUS EPILEPSY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SEROTONINERGIC SYSTEM; TRYPTOPHAN METABOLISM;

ANIMALS; BRAIN; CEREBELLUM; CEREBRAL CORTEX; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CYSTATIN B; CYSTATINS; DISEASE MODELS, ANIMAL; FEMALE; HYDROXYINDOLEACETIC ACID; KYNURENINE; MALE; MICE; MUTATION; PHENOTYPE; SEROTONIN; SYNAPTIC TRANSMISSION; TRYPTOPHAN; UNVERRICHT-LUNDBORG SYNDROME;

EID: 33749667038     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2006.00638.x     Document Type: Article

References (30)

1. Airaksinen EM and Leino E. (1982) Decrease of GABA in the cerebrospinal fluid of patients with progressive myoclonus epilepsy and its correlation with the decrease of 5HIAA and HVA. Acta Neurologica Scandinavica 66:666-672.
2. Arbatova J, D'Amato E, Vaarmann A, Zharkovsky A, Reeben M. (2005) Reduced serotonin and 3-hydroxyanthranilic acid levels in serum of cystatin B-deficient mice, a model system for progressive myoclonus epilepsy. Epilepsia 46:49-51.
3. Bodner RA, Lynch T, Lewis L, Kahn D. (1995) Serotonin syndrome. Neurology 45:219-223.
4. Heyes MP, Saito K, Devinsky O, Nadi NS. (1994) Kynurenine pathway metabolites in cerebrospinal fluid and serum in complex partial seizures. Epilepsia 35:251-257.
5. Houseweart MK, Pennacchio LA, Vilaythong A, Peters C, Noebels JL, Myers RM. (2003) Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht-Lundborg progressive myoclonus epilepsy (EPM1). Journal of Neurobiology 56:315-327.
6. Karhu J, Hari R, Paetau R, Kajola M, Mervaala E. (1994) Cortical reactivity in progressive myoclonus epilepsy. Electroencephalography and Clinical Neurophysiology 90:93-102.
7. Koskiniemi M, Donner M, Majuri H, Haltia M, Norio R. (1974) Progressive myoclonus epilepsy: a clinical and histopathological study. Acta Neurologica Scandinavica 50:307-332.
8. Lalioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Ouazzani R, Baldy-Moulinier M, Bottani A, Malafosse A, Antonarakis SE. (1997) Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). American Journal of Human Genetics 60:342-351.
9. Lane R, Baldwin D. (1997) Selective serotonin reuptake inhibitor-induced serotonin syndrome: review. Journal of Clinical Psychopharmacology 17:208-221.
10. Leino E, MacDonald E, Airaksinen MM, Riekkinen PJ. (1980) Homovanillic acid and 5-hydroxyindoleacetic acid levels in cerebrospinal fluid of patients with progressive myoclonus epilepsy. Acta Neurologica Scandinavica 62:41-54.
11. Lieuallen K, Pennacchio LA, Park M, Myers RM, Lennon GG. (2001) Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes. Human Molecular Genetics 10:1867-1871.
12. Mascalchi M, Michelucci R, Cosottini M, Tessa C, Lolli F, Riguzzi P, Lehesjoki AE, Tosetti M, Villari N, Tassinari CA. (2002) Brainstem involvement in Unverricht-Lundborg disease (EPM1): an MRI and (1)H MRS study. Neurology 58:1686-1689.
13. Ohsugi K, Adachi K, Ando K. (1986) Serotonin metabolism in the CNS in cerebellar ataxic mice. Experientia 42:1245-1247.
14. Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM. (1998) Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nature Genetics 20:251-258.
15. Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao, J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM. (1996) Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 271:1731-1734.
16. Pintor M, Mefford IN, Hutter I, Pocotte SL, Wyler AR, Nadi NS. (1990) Levels of biogenic amines, their metabolites, and tyrosine hydroxylase activity in the human epileptic temporal cortex. Synapse 5:152-156.
17. Pranzatelli MR, Tate E, Huang Y, Haas RH, Bodensteiner J, Ashwal S, Franz, D. (1995) Neuropharmacology of progressive myoclonus epilepsy: response to 5-hydroxy-L-tryptophan. Epilepsia 36:783-791.
18. Shannon P, Pennacchio LA, Houseweart MK, Minassian BA, Myers RM. (2002) Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease. Journal of Neuropathology and Experimental Neurology 61:1085-1091.
19. Sporer KA. (1995) The serotonin syndrome: implicated drugs, pathophysiology and management. Drug Safety 13:94-104.
20. Sternbach H. (1991) The serotonin syndrome. American Journal of Psychiatry 148:705-713.
21. Stone TW, Perkins MN. (1981) Quinolinic acid: a potent endogenous excitant at amino acid receptors in CNS. European Journal of Pharmacology 72:411-412.
22. Stone TW. (1993) Neuropharmacology of quinolinic and kynurenic acids. Pharmacological Review 45:309-379.
23. Stone TW. (2001) Kynurenines in the CNS: from endogenous obscurity to therapeutic importance. Progress in Neurobiology 64:185-218.
24. Uluitu M, Chis R, Petec G. (1986) The influence of auditory and lithium stimulation on blood and brain serotonin in the normal rat and in that susceptible to audiogenic convulsions. Physiologie 23:167-176.
25. Vaarmann A, Kask A, Maeorg U. (2002) Novel and sensitive highperformance liquid chromatographic method based on electrochemical coulometric array detection for simultaneous determination of catecholamines, kynurenine and indole derivatives of tryptophan. Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences 769:145-153.
26. Valzania F, Strafella AP, Tropeani A, Rubboli G, Nassetti SA, Tassinari CA. (1999) Facilitation of rhythmic events in progressive myoclonus epilepsy: a transcranial magnetic stimulation study. Clinical Neurophysiology 110:152-157.
27. Van Woert MH, Jutkowitz R, Rosenbaum D, Bowers MB Jr. (1976) Serotonin and myoclonus. Monographs in Neural Sciences 3:71-80.
28. Walther DJ, Peter JU, Bashammakh S, Hortnagl H, Voits M, Fink H, Bader M. (2003) Synthesis of serotonin by a second tryptophan hydroxylase isoform. Science 299:76.
29. Yadid G, Sotnik-Barkai I, Tornatore C, Baker-Cairns B, Harvey-White J, Pentchev PG, Goldin E. (1998) Neurochemical alterations in the cerebellum of a murine model of Niemann-Pick type C disease. Brain Research 799:250-256.
30. Zhang X, Beaulieu JM, Sotnikova TD, Gainetdinov RR, Caron MG. (2004) Tryptophan hydroxylase-2 controls brain serotonin synthesis. Science 305:217.