Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy

International Journal of Audiology

Volumn 52, Issue 1, 2013, Pages 23-28

  Liu, Xue Zhong ^a,b,c   Xie, Dinghua ^b   Yuan, Hui Jun ^c   De Brouwer, Arjan P M ^d   Christodoulou, John ^e   Yan, Denise ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c CHINESE PLA GENERAL HOSPITAL   (China)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Genetic deafness; Hearing impairment; Mutation; Phenotypic variation; PRPS1; Sex linked

Indexed keywords

PRPS1 PROTEIN, HUMAN; RIBOSEPHOSPHATE PYROPHOSPHOKINASE; S ADENOSYLMETHIONINE;

ARTICLE; DIET SUPPLEMENTATION; ENZYMOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HEARING; HEARING IMPAIRMENT; HEREDITY; HUMAN; MALE; MUTATION; PATHOPHYSIOLOGY; PHENOTYPE; SEVERITY OF ILLNESS INDEX; SEX DIFFERENCE;

DIETARY SUPPLEMENTS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEARING; HEARING LOSS; HEREDITY; HUMANS; MALE; MUTATION; PHENOTYPE; RIBOSE-PHOSPHATE PYROPHOSPHOKINASE; S-ADENOSYLMETHIONINE; SEVERITY OF ILLNESS INDEX; SEX FACTORS;

EID: 84870896190     PISSN: 14992027     EISSN: 17088186     Source Type: Journal    
DOI: 10.3109/14992027.2012.736032     Document Type: Article

References (45)

1. Arts W.F., Loonen M.C., Sengers R.C. & Slooff J.L. 1993. X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. Ann Neurol, 33, 535-539.
2. Barankiewicz J. & Henderson J.F. 1977. Effect of lowered intracellular ATP and GTP concentrations on purine ribonucleotide synthesis and interconversion. Can J Biochem, 55, 257-262.
3. Becker M.A. & Kim M. 1987. Regulation of purine synthesis de novo in human fi broblasts by purine nucleotides and phosphoribosylpyrophosphate. J Biol Chem, 262, 14531-14537.
4. Becker M.A., Puig J.G., Mateos F.A., Jimenez M.L., Kim M. et al. 1988. Inherited superactivity of phosphoribosylpyrophosphate synthetase: Association of uric acid overproduction and sensorineural deafness. Am J Med, 85, 383-390.
5. Becker M.A., Heidler S.A., Bell G.I., Seino S., LeBeau M.M. et al. 1990. Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes. Genomics, 8, 550-561.
6. Becker M.A., Smith P.R., Taylor W., Mustafi R. & Switzer R.L. 1995. The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity. J Clin Invest, 96, 2133-2141.
7. Becker M.A., Taylor W., Smith P.R. & Ahmed M. 1996. Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase. J Biol Chem, 271, 19894-19899.
8. Becker M.A. 2001. Phosphoribosylpyrophosphate synthetase and the regulation of phosphoribosylpyrophosphate production in human cells. Prog Nucl Acid Res Mol Biol, 69, 115-148.
9. Becker M.A. 2008. Hyperuricemia and Gout. In: D. Valle, (ed.), The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID). New York: McGraw-Hill, chapter 205.
10. Benke P.J. & Dittman D. 1977. Phosphoribosylpyrophosphate synthesis in cultured human cells. Science, 198, 1171-1173.
11. Bottiglieri T. 2002. S-adenosyl-l-methionine (SAMe): From the bench to the bedside: Molecular basis of a pleiotrophic molecule. Am J Clin Nutr, 76, 1151SY1157S.
12. Chiang P.K., Gordon R.K., Tal J., Zeng G.C., Doctor B.P. et al. 1996. S -Adenosylmethionine and methylation. FASEB J, 10, 471-480.
13. Cui B., Zhang H., Lu Y., Zhong W., Pei G. et al. 2004. Refi nement of the locus for non-syndromic sensorineural deafness (DFN2). J Genet, 83, 35-38.
14. de Brouwer A.P., Williams K.L., Duley J.A., van Kuilenburg A.B., Nabuurs S.B. et al. 2007. Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet, 81, 507-518.
15. de Brouwer A.P.M., van Bokhoven H., Nabuurs S.B., Arts W.F., Christodoulou J. et al. 2010. PRPS1 mutations: Four distinct syndromes and potential treatment. Am J Hum Genet, 86, 506-518.
16. Garc i ́ a-Pav i ́ a P., Torres R.J., Rivero M., Ahmed M., Garc í a-Puig J. et al. 2003. Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman. Arthritis Rheum, 48, 2036-2041.
17. Glick N. 2006. Dramatic reduction in self-injury in Lesch-Nyhan disease following S - adenosylmethionine administration. J Inherit Metab Dis, 29, 687.
18. Hartman S.C. & Buchanan J.M. 1958. Biosynthesis of the purines. XXI. 5-Phosphoribosylpyrophosphate amidotransferase. J Biol Chem, 233, 451-455.
19. Kawahara Y., Zinshteyn B., Sethupathy P., Iizasa H., Hatzigeorgiou A.G. et al. 2007. Redirection of silencing targets by adenosine-to-inosine editing of miRNAs. Science, 315, 1137-1140.
20. Khorana H.G., Fernandes J.F. & Kornberg A. 1958. Pyrophosphorylation of ribose 5-phosphate in the enzymatic synthesis of 5-phosphorylribose 1-pyrophosphate. J Biol Chem, 230, 941-948.
21. Kim H.J., Sohn K.M., Shy M.E., Krajewski K.M., Hwang M. et al. 2007. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet, 81, 552-558.
22. Kornberg A., Lieberman I. & Simms E.S. 1955. Enzymatic synthesis and properties of 5-phosphoribosylpyrophosphate. J Biol Chem, 215, 389-402.
23. Kremer H., Hamel B.C.J., van den Helm B., Arts W.F.M., de Wijs I.J. et al. 1996. Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood. Hum Genet, 98, 513-517.
24. Lieberman I., Kornberg A. & Simms E.S. 1955. Enzymatic synthesis of pyrimidine nucleotides; orotidine-50-phosphate and uridine-50-phosphate. J Biol Chem, 215, 403-451.
25. Liu H., Peng X., Zhao F., Zhang G., Tao Y. et al. 2009. N114S mutation causes loss of ATP-induced aggregation of human phosphoribosylpyrophosphate synthetase 1. Biochem Biophys Res Commun, 379, 1120-1125.
26. Liu X.Z., Han D., Li J., Han B., Ouyang X. et al. 2010. Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. Am J HumGenet, 86, 65-71.
27. Manolis E.N., Eavey R.D., Sangwatanaroj S., Halpin C., Rosenbaum S. et al. 1999. Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21. Am J Otol, 20, 621-626.
28. Miller Jr., G.A., Rosenzweig S. & Switzer R.L. 1975. Oxygen-18 studies of the mechanism of pyrophosphoryl group transfer catalyzed by phosphoribosylpyrophosphate synthetase. Arch Biochem Biophys, 171, 732-736.
29. Montero C., Smolenski R.T., Duley J.A. & Simmonds H.A. 1990. S-adenosylmethionine increases erythrocyte ATP in vitro by a route independent of adenosine kinase. Biochem Pharmacol, 40, 2617-2623.
30. Moran R., Kuilenburg A.B.P., Duley J., Nabuurs S.B., Retno-Fitri A. et al. 2012. Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. Am J Med Genet, Part A, 455-460.
31. Nyhan W.L. 2005. Disorders of purine and pyrimidine metabolism. Mol Genet Metab, 86, 25-33.
32. Palella T.D., Andres C.M. & Fox I.H. 1980. Human placental adenosine kinase. Kinetic mechanism and inhibition. J Biol Chem, 255, 5264- 5269.
33. Petersen M.B., Wang Q., Willems P.J. 2008. Sex-linked deafness. Clin Genet, 73, 14-23.
34. Preiss J. & Handler P. 1958. Biosynthesis of diphosphopyridine nucleotide. II. Enzymatic aspects. J Biol Chem, 233, 493-500.
35. Reardon W. 1990. Sex linked deafness: Wilde revisited. J Med Genet, 27, 376-379.
36. Roessler B.J., Golovoy N., Palella T.D., Heidler S. & Becker M.A. 1991. Identifi cation of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity. Adv Exp Med Biol, 309B, 125-128.
37. Rosenberg R.N. & Chutorian A. 1967. Familial opticoacoustic nerve degeneration and polyneuropathy. Neurology, 17, 827-832.
38. Ross B.M., Moszczynska A., Blusztajn J.K., Sherwin A., Lozano A. et al. 1997. Phospholipid biosynthetic enzymes in human brain. Lipids, 32, 351-358.
39. Schuster S. & Kenanov D. 2005. Adenine and adenosine salvage pathways in erythrocytes and the role of S - adenosylhomocysteine hydrolase: A theoretical study using elementary fl ux modes. FEBS J, 272, 5278-5290.
40. Simmonds H.A., Fairbanks L.D., Duley J.A. & Morris G.S. 1989. ATP formation from deoxyadenosine in human erythrocytes: Evidence for a hitherto unidentifi ed route involving adenine and S-adenosylhomocysteine hydrolase. Biosci Rep, 9, 75-85.
41. Smolenski R.T., Montero C., Duley J.A. & Simmonds H.A. 1991. Effects of adenosine analogues on ATP concentrations in human erythrocytes: Further evidence for a route independent of adenosine kinase. Biochem Pharmacol, 42, 1767-1773.
42. Smolenski R.T., Fabianowska-Majewska K., Montero C., Duley J. A., Fairbanks L.D. et al. 1992. A novel route of ATP synthesis. Biochem Pharmacol 43, 2053-2057.
43. Sperling O., Eilam G., Persky-Brosh S. & De Vries. 1972. Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and gout. Biochem Med, 6, 310-316.
44. Taira M., Iizasa T., Yamada K., Shimada H. & Tatibana M. et al. 1989. Tissue-differential expression of two distinct genes for phosphoribosylpyrophosphate synthetase and existence of the testis-specifi c transcript. Biochim Biophys Acta, 1007, 203-208.
45. Tyson J., Bellman S., Newton V., Simpson P., Malcolm S. et al. 1996. Mapping of DFN2 to Xq22. Hum Mol Genet, 5, 2055-2060.