Association of PRPS1 Mutations with Disease Phenotypes

Disease Markers

Volumn 2015, Issue , 2015, Pages

  Mittal, Rahul ^a   Patel, Kunal ^a   Mittal, Jeenu ^a   Chan, Brandon ^a   Yan, Denise ^a   Grati, M'Hamed ^a   Liu, Xue Zhong ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

ALLOPURINOL; PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE 1; PURINE; RIBOSEPHOSPHATE PYROPHOSPHOKINASE; S ADENOSYLMETHIONINE; UNCLASSIFIED DRUG; URIC ACID; PRPS1 PROTEIN, HUMAN; PURINE DERIVATIVE;

ARTS SYNDROME; ATAXIA; DIET SUPPLEMENTATION; DISEASE COURSE; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME STRUCTURE; GAIN OF FUNCTION MUTATION; GENE MUTATION; GENE OVEREXPRESSION; GENERAL ASPECTS OF DISEASE; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LOSS OF FUNCTION MUTATION; MUSCLE HYPOTONIA; OPTIC NERVE DISEASE; PERCEPTION DEAFNESS; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; REVIEW; X LINKED NONSYNDROMIC SENSORINEURAL DEAFNESS; DEAFBLINDNESS; GENETICS; METABOLISM; MUTATION; X CHROMOSOME LINKED DISORDER;

ATAXIA; CHARCOT-MARIE-TOOTH DISEASE; DEAF-BLIND DISORDERS; GENETIC DISEASES, X-LINKED; HEARING LOSS, SENSORINEURAL; HUMANS; MUTATION; PHENOTYPE; PURINES; RIBOSE-PHOSPHATE PYROPHOSPHOKINASE;

EID: 84935882514     PISSN: 02780240     EISSN: 18758630     Source Type: Journal    
DOI: 10.1155/2015/127013     Document Type: Review

References (40)

1. A. P. M. de Brouwer, H. van Bokhoven, S. B. Nabuurs, W. F. Arts, J. Christodoulou, and J. Duley, "PRPS1 mutations: four distinct syndromes and potential treatment, " The American Journal of Human Genetics, vol. 86, no. 4, pp. 506-518, 2010.
2. P. Chen, J. Li, J. Ma, M. Teng, and X. Li, "A small disturbance, but a serious disease: the possible mechanism of D52H-mutant of human PRS1 that causes gout, " IUBMB Life, vol. 65, no. 6, pp. 518-525, 2013.
3. X. Z. Liu, D. Xie, H. J. Yuan, A. P. M. de Brouwer, J. Christodoulou, and D. Yan, "Hearing loss and PRPS1mutations: wide spectrum of phenotypes and potential therapy, " International Journal of Audiology, vol. 52, no. 1, pp. 23-28, 2013.
4. S. C. Hartman and J. M. Buchanan, "Biosynthesis of the purines. XXI. 5-Phosphoribosylpyrophosphate amidotransferase, " The Journal of Biological Chemistry, vol. 233, no. 2, pp. 451-455, 1958.
5. X. Liu, D. Han, J. Li, et al., "Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2, "The American Journal of Human Genetics, vol. 86, no. 1, pp. 65-71, 2010.
6. A. Kornberg, I. Lieberman, and E. S. Simms, "Enzymatic synthesis and properties of 5-phosphoribosylpyrophosphate, " The Journal of Biological Chemistry, vol. 215, no. 1, pp. 389-402, 1955.
7. J. Barankiewicz and J. F. Henderson, "Effect of lowered intracellular ATP and GTP concentrations on purine ribonucleotide synthesis and interconversion, " Canadian Journal of Biochemistry, vol. 55, no. 3, pp. 257-262, 1977.
8. D. Yan, Y. Xing, X. Ouyang, et al., "Analysis of miR-376 RNA cluster members in the mouse inner ear, " International Journal of Experimental Pathology, vol. 93, no. 6, pp. 450-457, 2012.
9. M. Taira, T. Iizasa, K. Yamada, H. Shimada, and M. Tatibana, "Tissue-differential expression of two distinct genes for phosphoribosyl pyrophosphate synthetase and existence of the testis-specific transcript, " Biochimicaet Biophysica Acta, vol. 1007, no. 2, pp. 203-208, 1989.
10. B. Zhang, Q. Wang, and X. Pan, "MicroRNAs and their regulatory roles in animals and plants, " Journal of Cellular Physiology, vol. 210, no. 2, pp. 279-289, 2007.
11. D. P. Bartel, "MicroRNAs: genomics, biogenesis, mechanism, and function, " Cell, vol. 116, no. 2, pp. 281-297, 2004.
12. K. Ranganathan and V. Sivasankar, "MicroRNAs-biology and clinical applications, " Journal of Oral and Maxillofacial Pathology, vol. 18, no. 2, pp. 229-234, 2014.
13. M. A. Becker, P. R. Smith, W. Taylor, R. Mustafi, and R. L. Switzer, "The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity, " Journal of Clinical Investigation, vol. 96, no. 5, pp. 2133-2141, 1995.
14. B. J. Roessler, N. Golovoy, T. D. Palella, S. Heidler, and M. A. Becker, "Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity, " Advances in Experimental Medicine and Biology, vol. 309B, pp. 125-128, 1991.
15. M. A. Becker, W. Taylor, P. R. Smith, and M. Ahmed, "Overexpression of the normal phosphoribosylpyrophosphate synthetase isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase, "The Journal of Biological Chemistry, vol. 271, no. 33, pp. 19894-19899, 1996.
16. P. Garcia-Pava, R. J. Torres, M. Rivero, M. Ahmed, J. Garcia-Puig, and M. A. Becker, "Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman, " Arthritis and Rheumatism, vol. 48, no. 7, pp. 2036-2041, 2003.
17. R. Moran, A. B. P. Kuilenburg, J. Duley, et al., "Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p. Val142Leu mutation in PRS-I, " American Journal of Medical Genetics Part A, vol. 158, no. 2, pp. 455-460, 2012.
18. M. Robusto, M. Fang, R. Asselta, et al., "The expand ing spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy, " European Journal of Human Genetics, 2014.
19. J. Park, Y. S. Hyun, Y. J. Kim, et al., "Exome sequencing reveals a novel PRPS1 mutation in a family with CMTX5 without optic atrophy, " Journal of Clinical Neurology (Seoul, Korea), vol. 9, no. 4, pp. 283-288, 2013.
20. H.-J. Kim, K.-M. Sohn, M. E. Shy, et al., "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), " American Journal of Human Genetics, vol. 81, no. 3, pp. 552-558, 2007.
21. M. Synofzik, J. Muller Vom Hagen, T. B. Haack, et al., "X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation, " Orphanet Journal of Rare Diseases, vol. 9, article 24, 2014.
22. A. P. M. de Brouwer, K. L. Williams, J. A. Duley, et al., "Arts syndrome is caused by loss-of-function mutations in PRPS1, " American Journal of Human Genetics, vol. 81, no. 3, pp. 507-518, 2007.
23. A. Al-Maawali, L. Dupuis, S. Blaser, et al., "Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expand ing the spectrum of PRPS1-related disorders, " European Journal of Human Genetics, vol. 23, no. 3, pp. 310-316, 2014.
24. J. A. Duley, J. Christodoulou, and A. P. M. de Brouwer, "The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?" Nucleosides, Nucleotides and Nucleic Acids, vol. 30, no. 12, pp. 1129-1139, 2011.
25. P. M. de Brouwer, J. A. Duley, and J. Christodoulou, "Phosphoribosylpyrophosphate synthetase superactivity, " in GeneReviews( R), R. A. Pagon, M. P. Adam, H. H. Ardinger, et al., Eds., University ofWashington, Seattle, Wash, USA, 1993.
26. M. Ahmed, W. Taylor, P. R. Smith, and M. A. Becker, "Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase, " The Journal of Biological Chemistry, vol. 274, no. 11, pp. 7482-7488, 1999.
27. E. Zoref, A. de Vries, and O. Sperling, "Mutant feedbackresistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts, " The Journal of Clinical Investigation, vol. 56, no. 5, pp. 1093-1099, 1975.
28. M. A. Becker, J. G. Puig, F. A. Mateos, M. L. Jimenez, M. Kim, and H. A. Simmonds, "Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness, " American Journal of Medicine, vol. 85, no. 3, pp. 383-390, 1988.
29. I. Akaoka, S. Fujimori, N. Kamatani, et al., "A gouty family with increased phosphoribosylpyrophosphate synthetase activity: case reports, familial studies, and kinetic studies of the abnormal enzyme, " The Journal of Rheumatology, vol. 8, no. 4, pp. 563-574, 1981.
30. M. A. Becker, P. J. Kostel, and L. J. Meyer, "Humanphosphoribosylpyrophosphate synthetase. Comparison of purified normal and mutant enzymes, " The Journal of Biological Chemistry, vol. 250, no. 17, pp. 6822-6830, 1975.
31. M. A. Becker, M. J. Losman, P. Itkin, and P. A. Simkin, "Gout with superactive phosphoribosylpyrophosphate synthetase due to increased enzyme catalytic rate, " Journal of Laboratory and Clinical Medicine, vol. 99, no. 4, pp. 495-511, 1982.
32. M. A. Becker, M. J. Losman, A. L. Rosenberg, I. Mehlman, D. J. Levinson, and E. W. Holmes, "Phosphoribosylpyrophosphate synthetase superactivity. A study of five patients with catalytic defects in the enzyme, " Arthritis & Rheumatism, vol. 29, no. 7, pp. 880-888, 1986.
33. M. A. Becker, K. O. Raivio, B. Bakay, W. B. Adams, and W. L. Nyhan, "Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions, " The Journal of Clinical Investigation, vol. 65, no. 1, pp. 109-120, 1980.
34. M. A. Becker, M. J. Losman, J. Wilson, and H. A. Simmond, "Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate, " Biochimicaet Biophysica Acta, vol. 882, no. 2, pp. 168-176, 1986.
35. M. A. Becker, J. M. Nosal, R. L. Switzer, P. R. Smith, T. D. Palella, and B. J. Roessler, "Point mutations in PRPS1, the gene encoding the PRPP synthetase (PRS) 1 isoform, underlie X-linked PRS superactivity associated with purine nucleotide inhibitor-resistance, " Advances in Experimental Medicine and Biology, vol. 370, pp. 707-710, 1995.
36. H. Yuan and X. Z. Liu, "DFNX1 nonsyndromic hearing loss and deafness, " in Gene Reviews, R. A. Pagon, M. P. Adam, and H. H. Ardinger, Eds., University of Washington, Seattle, Wash, USA, 1993.
37. M. H. Song, K.-Y. Lee, J. Y. Choi, J. Bok, and U.-K. Kim, "Nonsyndromic X-linked hearing loss, " Frontiers in Bioscience: Elite, vol. 4, no. 3, pp. 924-933, 2012.
38. J. W. Kim and H. J. Kim, "Charcot-marie-tooth neuropathy X type 5, " in GeneReviews(R), R. A. Pagon, Ed., University of Washington, Seattle, Wash, USA, 1993.
39. P. M. de Brouwer, J. A. Duley, and J. Christodoulou, "Arts syndrome, " in GeneReviews(R), R. A. Pagon, Ed., University of Washington, Seattle, Wash, USA, 1993.
40. N. Glick, "Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration, " Journal of Inherited Metabolic Disease, vol. 29, no. 5, p. 687, 2006.