次黄嘌呤鸟嘌呤磷酸核糖转移酶研究进展

doi:10.3724/SP.J.1005.2013.00948

[an error occurred while processing this directive]

HEREDITAS ›› 2013, Vol. 35 ›› Issue (8): 948-954.doi: 10.3724/SP.J.1005.2013.00948

Previous Articles Next Articles

Research progress in hypoxanthine-guanine phosphoribosyltrans-ferase

DING Hui, YUE Li-Jie, YANG Chun-Lan

Insitute of Pediatrics Research, Shenzhen Children’s Hospital of Chongqing Medical University, Shenzhen 518026, China

Received:2013-01-29 Revised:2013-03-02 Online:2013-08-20 Published:2013-08-25

Abstract

Abstract:

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) is a cytoplasmic enzyme which is widely distributed in the body. It not only involves in the purine salvage pathway, but also relates to the metabolism of purine analogues drugs. It is a critical transferase regulating the pharmacological effects and toxicity of purine analogues drugs. The mutations of the gene for HPRT, which influence its activity, may cause metabolic diseases with different clinical symptoms, and influence the metabolism of purine analogues. The HPRT gene, also a housekeeping gene, can serve diagnostic markers for many disorders. This paper reviews the recent progresses on HPRT researches in promoting the individual treatment of analogues drugs and the development of new drugs and improving the diagnosis and therapy of inherited metabolic disease caused by HPRT mutations.

Key words: 6-mercaptopurine (6-MP), acute lymphoblastic leukemia (ALL), hypoxanthine-guanine phosphoribosyltransferase (HPRT), mutation, metabolic diseases

DING Hui, YUE Li-Jie, YANG Chun-Lan. Research progress in hypoxanthine-guanine phosphoribosyltrans-ferase[J]. HEREDITAS, 2013, 35(8): 948-954.

References

[1] Kowalewska M, Danska-Bidzinska A, Bakula-Zalewska E, Bidzinski M. Identification of suitable reference genes for gene expression measurement in uterine sarcoma and car-cinosarcoma tumors. Clin Biochem, 2012, 45(4-5): 368-371.

[2] Zieliáski J, Kusy K. Training-induced adaptation in purine metabolism in high-level sprinters vs. Triathletes. J Appl Physiol, 2012, 112(4): 542-551.

[3] Hüttner E, Speit G, Lambere B, Hou SM, Holzapfel B, Tates A. European HPRT Workshop in Collaboration with GUM Gatersleben-Quedlinburg. Mutat Res, 1996, 359(1): 71-76.

[4] Duan J, Nilsson L, Lambert B. Structural and functional analysis of mutations at the human hypoxanthine phos-phoribosyl transferase (HPRT1) locus. Hum Mutat, 2004, 23(6): 599-611.

[5] Eads JC, Scapin G, Xu YM, Grubmeyer C, Sacchettini JC. The crystal structure of Human hypoxanthine- guanine phosphoribosyltransferase with bound GMP. Cell, 1994, 78(2): 325-334.

[6] Keough DT, Brereton IM, de Jersey J, Guddat LW. The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle. J Mol Biol, 2005, 351(1): 170-181.

[7] Gogia S, Balaram H, Puranik M. Hypoxanthine guanine phosphoribosyltransferase distorts the purine ring of nu-cleotide substrates and perturbs the pKa of bound xan-thosine monophosphate. Biochemistry, 2011, 50(19): 4184-4193.

[8] Boulton-Jones JR, Pritchard K, Mahmoud AA. The use of 6-mercaptopurine in patients with inflammatory bowel disease after failure of azathioprine therapy. Aliment Pharmacol Ther, 2000, 14(12): 1561-1565.

[9] Dubinsky MC, Vasiliauskas EA, Singh H, Abreu MT, Papadakis KA, Tran T, Martin P, Vierling JM, Geller SA, Targan SR, Poordad FF. 6-Thioguanine can cause serious liver injury in inflammatory bowel disease patients. Gas-troenterology, 2003, 125(2): 298-303.

[10] Seinen ML, van Asseldonk DP, Mulder CJ, de Boer NK. Dosing 6-thioguanine in inflammatory bowel disease: expert-based guidelines for daily practice. J Gastrointestin Liver Dis, 2010, 19(3): 291-294.

[11] van Asseldonk DP, Jharap B, Kuik DJ, de Boer NK, Westerveld BD, Russel MG, Kubben FJ, van Bodegraven AA, Mulder CJ. Prolonged thioguanine therapy is well tolerated and safe in the treatment of ulcerative colitis. Dig Liver Dis, 2011, 43(2): 110-115.

[12] Bradford K, Shih DQ. Optimizing 6-mercaptopurine and azathioprine therapy in the management of inflammatory bowel disease. World J Gastroenterol, 2011, 17(37): 4166-4173.

[13] Jharap B, Seinen ML, de Boer NKH, van Ginkel JR, Linskens RK, Kneppelhout JC, Mulder CJJ, van Bode-graven AA. Thiopurine therapy in inflammatory bowel disease patients: analyses of two 8-year intercept cohorts. Inflamm Bowel Dis, 2010, 16(9): 1541-1549.

[14] Schmiegelow K, Al-Modhwahi I, Andersen MK, Behrendtz M, Forestier E, Hasle H, Heyman M, KristinssonJ, Nersting J, Nygaard R, Svendsen AL, Vettenranta K, Weinshilboum R. Methotrexate/6-mercaptopurine maintenance therapy influences the risk of a second malignant neoplasm after childhood acute lymphoblastic leukemia: results from the NOPHO ALL-92 study. Blood, 2009, 113(24): 6077-6084.

[15] De Miranda P, Beacham LM 3rd, Creagh TH, Elion GB. The metabolic fate of the methylnitroimidazole moiety of azathioprine in the rat. J Pharmacol Exp Ther, 1973, 187(3): 588-601.

[16] Lennard L. The clinical pharmacology of 6-mercaptopurine. Eur J Clin Pharmacol, 1992, 43(4): 329-339.

[17] Gearry RB, Barclay ML, Roberts RL, Harraway J, Zhang M, Pike LS, George PM, Florkowski CM. Thiopurine methyltransferase and 6-thioguanine nucleotide measurement: early experience of use in clinical practice. Int Med J, 2005, 35(10): 580-585.

[18] Deshpande AR, Abreu MT. Optimizing therapy with 6-mercaptopurine and azathioprine: to measure or not to measure? Therap Adv Gastroenterol, 2010, 3(5): 275-279.

Metrics

Comments

www.chinagene.cn
备案号：京ICP备09063187号

Research progress in hypoxanthine-guanine phosphoribosyltrans-ferase

PDF (PC)

Knowledge

Abstract

Cite this article

share this article

References

Related Articles 15

Recommended Articles

Metrics

Comments

[1]	Juan Huang, Wenhua Miao, Xiaofeng Guo, Wei Ji. Diagnosis and genetic testing analysis of limb-girdle muscular dystrophy type 2U caused by a compound heterozygous mutation in the ISPD gene [J]. Hereditas(Beijing), 2023, 45(6): 536-542.
[2]	Yiming Gong, Xiangyu Wang, Xiaoyun He, Yufang Liu, Ping Yu, Mingxing Chu, Ran Di. Progress on the effect of FecB mutation on BMPR1B activity and BMP/SMAD pathway in sheep [J]. Hereditas(Beijing), 2023, 45(4): 295-305.
[3]	Jie Ma, Lujie Huang, Qiaoxia Zhang, Yan Zhu, Lu Qian. PBL teaching design of medical genetics with the case of brachydactyly type A2 [J]. Hereditas(Beijing), 2023, 45(2): 176-183.
[4]	Luyang Li, Sunqiang Liu, Yun Shi, Chengcheng Zhao, Hongwen Zhou, Xuqin Zheng. Diagnosis, treatment and genetic analysis of a case of hypoglycemia caused by glucokinase gene mutation [J]. Hereditas(Beijing), 2022, 44(9): 810-818.
[5]	Shaozheng Song, Zhengyi He, Yong Cheng, Baoli Yu, Ting Zhang, Dan Li. MSTN modification in goat mediated by TALENs and performance analysis [J]. Hereditas(Beijing), 2022, 44(6): 531-542.
[6]	Siqi Wang, Yang Chen, Kuanhong Luo, Ningjie Shi, Kangli Xiao, Zhenhai Cui, Tianshu Zeng, Huiqing Li. Diagnosis and genetic analysis of a case of Waardenburg syndrome type 2 with hypogonadotropic hypogonadism caused by SOX10 gene deletion [J]. Hereditas(Beijing), 2022, 44(12): 1158-1166.
[7]	Qingqing Song, Susu Zhang, Zhen Zhang, Jia Sun, Rui Yang, Jitong Li , Hong Chen. Diagnosis, treatment and genetic analysis of 11β -hydroxylase deficiency caused by CYP11B gene mutation [J]. Hereditas(Beijing), 2022, 44(12): 1175-1182.
[8]	Ruizhi Jiajue, Cheng Xiao, Yiwen Liu, Ran Li, Huabing Zhang, Miao Yu. Diagnosis, treatment and genetic analysis of two cases of congenital hyperinsulinemic hypoglycemia caused by GCK gene mutation [J]. Hereditas(Beijing), 2022, 44(11): 1056-1062.
[9]	Jiaqi Liang, Chang Liu, Wenxiang Zhang, Siyu Chen. Interaction between hepatokines and metabolic diseases [J]. Hereditas(Beijing), 2022, 44(10): 853-866.
[10]	Cheng Xiao, Jieying Liu, Chunru Yang, Miao Yu. Advances in lipodystrophy syndrome caused by LMNA gene mutation [J]. Hereditas(Beijing), 2022, 44(10): 913-925.
[11]	Zhiyong Liu, He Ren, Chong Chen, Jingjing Zhang, Xiaomeng Zhang, Yan Shi, Linyu Shi, Ying Chen, Feng Cheng, Li Jia, Man Chen, Qingwei Fan, Jiarong Zhang, Wanting Li, Mengchun Wang, Zilin Ren, Yacheng Liu, Ming Ni, Hongyu Sun, Jiangwei Yan. Actual mutational research of 19 autosomal STRs based on restricted mutation model and big data [J]. Hereditas(Beijing), 2021, 43(10): 949-961.
[12]	Linan Zhao, Na Wang, Guoliang Yang, Xianbin Su, Zeguang Han. A method for reliable detection of genomic point mutations based on single-cell target-sequencing [J]. Hereditas(Beijing), 2020, 42(7): 703-712.
[13]	Miaomiao Cheng, Yanyan Cao. The NMD escape mechanism and its application in disease therapy [J]. Hereditas(Beijing), 2020, 42(4): 354-362.
[14]	Qianqian Zhang,Li Zhang,Yaohua Tang,Xiarong Li,Xiaopeng Xu,Ming Qi,Xiangmin Xu. A comprehensive repository of mutation data and a clinical assistant decision system for hemoglobinopathy in the Chinese population [J]. Hereditas(Beijing), 2019, 41(8): 746-753.
[15]	Zhaoqing Sun, Bo Yan. The roles and regulation mechanism of transcription factor GATA6 in cardiovascular diseases [J]. Hereditas(Beijing), 2019, 41(5): 375-383.