Sulphur anion metabolism in Rett syndrome patients: A pilot study

Journal of Pediatric Neurology

Volumn 4, Issue 4, 2006, Pages 233-237

  Waring, Rosemary ^a   Naidu, Sakkubai ^b   Skjeldal, Ola ^c   Klovrza, Liba ^a   Reichelt, Karl L ^c  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b KENNEDY KRIEGER INSTITUTE   (United States)

^c Rikshospitale   (Norway)

Author keywords

Metabolism; Rett syndrome; Rhodanese; Sulphur anions

Indexed keywords

CREATININE; CYSTEINE; SULFATE; SULFITE; SULFUR; THIOCYANATE; THIOSULFATE; THIOSULFATE SULFURTRANSFERASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; CREATININE URINE LEVEL; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; PILOT STUDY; PROTEIN DEPLETION; PROTEIN EXPRESSION; PROTEIN URINE LEVEL; RETT SYNDROME; URINALYSIS; URINE PH; URINE VOLUME;

EID: 33845517857     PISSN: 13042580     EISSN: 18759041     Source Type: Journal    
DOI: 10.1055/s-0035-1557339     Document Type: Article

References (44)

1. T. Fukuda, Y. Yamashita, S. Nagamitsu, K. Miyamoto et al., Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: Pathological mutations and polymorphisms, Brain Dev 27 (2005), 211-217.
2. D. Balmer, J. Goldstine, Y.M. Rao and J.M. LaSalle, Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation, J Mol Med 81 (2003), 61-68.
3. II U Iurov, S.G. Vorsanova, VI U Voinova-Ulas et al., Epigenetic study of Rett's syndrome as an adequate model for autistic disorders, Zh Nevrol Psikhiatr Im S S Korsakova 105 (2005), 4-11, (in Russian).
4. E. Ballestar, S. Ropero, M. Alaminos et al., The impact of MECP2 mutations in the expression patterns of Rett syndrome patients, Hum Genet 116 (2005), 91-104.
5. J.L. Neul and H.Y. Zoghbi, Rett syndrome: A prototypical neurodevelopmental disorder, Neuroscientist 10 (2004), 118-128.
6. D.D. Armstrong, Neuropathology of Rett syndrome, J Child Neurol 20 (2005), 747-753.
7. S. Hammer, N. Dorrani, J. Dragich, S. Kudo and C. Schanen, The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome, Ment Retard Dev Disabil Res Rev 8 (2002), 94-98.
8. C. Einspieler, A.M. Kerr and H.F. Prechtl, Is the early development of girls with Rett disorder really normal? Pediatr Res 57(5 Pt1) (2005), 696-700.
9. A.L. Ham, A. Kumar, R. Deeter and N.C. Schanen, Does genotype predict phenotype in Rett syndrome? J Child Neurol 20 (2005), 768-778.
10. J. Christodoulou and L.S. Weaving, MECP2 and beyond: Phenotype-genotype correlations in Rett Syndrome, J Child Neurol 18 (2003), 669-674.
11. R.H. Mount, T. Charman, R.P. Hastings, S. Reilly and H. Cass, Features of autism in Rett syndrome and severe mental retardation, J Autism Dev Disord 33 (2003), 435-442.
12. R.H.Waring and L.V. Klovrza, Sulphur metabolism in autism, J Nutr Environ Med 10 (2000), 20-32.
13. B.A. Hagberg, F. Goutieres, F. Hanefeld, A. Rett and J.Wilson, Rett syndrome: Criteria for inclusion and exclusion, Brain Dev 7 (1985), 372-373.
14. B.A. Hagberg and O.H. Skjeldal, Rett variants: A suggested model for inclusion criteria, Pediatr Neurol 11 (1994), 5-11.
15. K.M. Solaas, O. Skjeldal, M.L. Gardner, F.B. Kase and K.L. Reichelt, Urinary peptides in Rett syndrome, Autism 6 (2002), 315-328.
16. W.H. Reichelt, A.M. Knivsberg, M. Nodland, M. Stensrud and K.L. Reichelt, Urinary peptide levels and patterns in autistic children from seven countries and the effects of dietary intervention after 4 years, Dev Brain Dysfunct 10 (1997), 44-55.
17. W.H. Reichelt, J. Ek, M. Stensrud and K.L. Reichelt, Peptide excretion in celiac disease, J Pediatr Gastroenterol Nutr 26 (1998), 305-309.
18. M.M. Bradford, A rapid and sensitive method for the quantitation of microgram quantities of protein utilising the principle of protein-dye binding, Anal Biochem 72 (1976), 248-254.
19. M.K. Gaitonde, A spectrophotometric method for the direct determination of cysteine in the presence of other naturally occurring aminoacids, Biochem J 104 (1967), 627-633.
20. S.G. Jackson and E.L. McCandless, Simple rapid turbidometric determination of inorganic sulphate and/or protein, Anal Biochem 90 (1978), 802-808.
21. J.B. Johnston, K. Murray and R.B. Cain, Microbial metabolism of aryl sulphonates: A reassessment of colorimetric methods for the determination of sulphite and their use in measuring desulphonation of aryl and alkylbenzene sulphonates, Antonie Van Leuwenhoek 41 (1975), 493-511.
22. V. Voroteliak, D.M. Cowley and T.H. Florin, Improved colorimetric determination of urinary thiosulfate to study intermediate sulfur metabolism in humans, Clin Chem 39 (1993), 2533-2534.
23. A.E. Pilkington and R.H. Waring, The determination of inorganic sulphate levels in biological fluids using HPLC techniques, Med Sci Res 16 (1988), 35-36.
24. M. Akhtar and H. Al Mana, Molecular basis of proteinuria, Adv Anat Pathol 11 (2004), 304-309.
25. A. Bjornson, J. Moses, A. Ingemansson, B. Haraldsson and J. Sorensson, Primary human glomerular endothelial cells produce proteoglycans and puromycin affects their posttranslational modification, Am J Physiol Renal Physiol 288 (2005), F748-F756.
26. C.J. Raats, J. Van Den Born and J.H. Berden, Glomerular heparan sulfate alterations: Mechanisms and relevance for proteinuria, Kidney Int 57 (2000), 385-400.
27. Y. Sakagami, M. Nakajima, K. Takagawa et al., Analysis of glomerular anionic charge status in children with IgA nephropathy using confocal laser scanning microscopy, Nephron Clin Pract 96 (2004), c96-c104.
28. V. Kucukatay, F. Savcioglu, G. Hacioglu, P. Yargicoglu and A. Agar, Effect of sulfite on cognitive function in normal and sulfite oxidase deficient rats, Neurotoxicol Teratol 27 (2005), 47-54.
29. X. Zhang, A.S. Vincent, B. Halliwell and K.P.Wong, A mechanism of sulfite neurotoxicity: Direct inhibition of glutamate dehydrogenase, J Biol Chem 279 (2004), 43035-43045.
30. W.H. Woo, H. Yang, K.P. Wong and B. Halliwell, Sulphite oxidase gene expression in human brain and in other human and rat tissues, Biochem Biophys Res Commun 305 (2003), 619-623.
31. J.L. Johnson, K.E. Coyne, R.M. Garrett et al., Isolated sulfite oxidase deficiency: Identification of 12 novel SUOX mutations in 10 patients, Hum Mutat 20 (2002), 74.
32. N. Aita, K. Ishii, Y. Akamatsu, Y. Ogasawara and S. Tanabe, Cloning and expression of human liver rhodanese cDNA, Biochem Biophys Res Commun 231 (1997), 56-60.
33. N. Nagahara and T. Nishino, Role of amino acid residues in the active site of rat liver mercaptopyruvate sulfurtransferase. CDNA cloning, over expression and site-directed mutagenesis, J Biol Chem 271 (1996), 27395-27401.
34. A.A. Al-Qarawi, H.M. Mousa and B.H. Ali, Tissue and intracellular distribution of rhodanese and mercaptopyruvate sulphurtransferase in ruminants and birds, Vet Res 32 (2001), 63-70.
35. N. Nagahara, O. Li and N. Sawada, Do antidotes for acute cyanide poisoning act on meurcaptopyruvate sulfurtransferase to facilitate detoxification? Curr Drug Targets Immune Endocr Metabol Disord 3 (2003), 198-204.
36. M. Iciek and L. Wlodek, Biosynthesis and biological properties of compounds containing highly reactive reduced sulfane sulfur, Pol J Pharmacol 53 (2001), 215-225.
37. R. Picton, M.C. Eggo, G.A. Merrill, M.J. Langman and S. Singh, Mucosal protection against sulphide: Importance of the enzyme rhodanese, Gut 50 (2002), 201-205.
38. J. Tor-Agbidye, V.S. Palmer, M.R. Lasarev et al., Bioactivation of cyanide to cyanate in sulfur amino acid deficiency: Relevance to neurological disease in humans subsisting on cassava, Toxicol Sci 50 (1999), 228-235.
39. N. Nagahara, T. Ito and M. Minami, Mercapto pyruvate sulfurtransferase as a defense against cyanide toxication: Molecular properties and mode of detoxication, Histol Histopathol 14 (1999), 1277-1286.
40. M. Wrobel, L. Wlodek and Z. Srebro, Sulfurtransferase activity and the level of low-molecular weight thiols and sulfane sulphur compounds in cortex and brain stem of mouse, Neurobiology (Bp) 4 (1996), 217-222.
41. Y. Mimori, S. Nakamura and M. Kameyama, Regional and subcellular distribution of cyanide metabolising enzymes in the central nervous system, J Neurochem 43 (1984), 540-545.
42. D.G. Glaze, Rett syndrome: Of girls and mice-lessons for regression in autism, Mental Retard Dev Disabil Res Rev 10 (2004), 154-158.
43. E. Ballestar and M. Esteller, Methyl-CpG-binding proteins in cancer: blaming the DNA methylation messenger, Biochem Cell Biol 83 (2005), 374-384.
44. V. Matarazzo, D. Cohen, A.M. Palmer et al., The transcriptional repressor Mecp2 regulates terminal neuronal differentiation, Mol Cell Neurosci 27 (2004), 44-58.