TPMT*26 (208F→L), a novel mutation detected in a Chinese (original) (raw)
Abstract
AI
TPMT*26 (208F→L) represents a novel mutation identified in a Chinese patient that correlates with reduced thiopurine methyltransferase (TPMT) enzyme activity and heightened sensitivity to the drug azathioprine, which is commonly used in autoimmune and transplant therapies. The study examines the genetic basis for azathioprine-related myelosuppression, revealing the significance of identifying genetic variants in diverse populations to prevent adverse drug reactions.
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References (14)
- Mason M, Currey HL, Barnes CG, Dunne JF, Hazleman BL, Strickland ID. Azathioprine in rheumatoid arthritis. BMJ 1969; 1: 420-2.
- Abu-Shakra M, Shoenfeld Y. Azathioprine therapy for patients with systemic lupus erythematosus. Lupus 2001; 10: 152-3.
- Lennard L, Murphy MF, Maddocks JL. Severe megaloblastic anaemia associated with abnormal azathioprine metabolism. Br J Clin Pharmacol 1984; 17: 171-2.
- Maddocks JL, Lennard L, Amess J, Amos R, Thomas RM. Azathioprine and severe bone marrow depression. Lancet 1986; I: 156.
- Lennard L, Van Loon JA, Weinshilboum RM. Pharmacogenetics of acute azathioprine toxicity: relationship to thiopurine methyltransferase genetic polymorphism. Clin Pharmacol Ther 1989; 46: 149-54.
- Swann PF, Waters TR, Moulton DC, Xu Y, Zheng Q, Edwards M, Mace R. Role of postreplicative DNA mismatch repair in the cytotoxic action of thioguanine. Science 1996; 273: 1109-11.
- Somerville L, Krynetski EY, Krynetskaia NF, Beger RD, Zhang W, Marhefka CA, Evans WE, Kriwacki RW. Structure and dynamics of thioguanine-modified duplex DNA. J Biol Chem 2003; 278: 1005-11.
- Weinshilboum RM, Raymond FA, Pazmino PA. Human erythrocyte thiopurine methyltransferase: radiochemical microassay and biochemical properties. Clin Chem Acta 1978; 85: 323-33.
- 9 Yates CR, Krynetski EY, Loennechen T, Fessing MY, Tai HL, Pui CH, Relling MV, Evans WE. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann Intern Med 1997; 126: 608-14.
- Tai HL, Krynetski EY, Yates CR, Loennechen T, Fessing MY, Krynetskaia NF, Evans WE. Thiopurine S-methyltransferase deficiency: two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians. Am J Hum Genet 1996; 58: 694-702.
- Otterness D, Szumlanski C, Lennard L, Klemetsdal B, Aarbakke J, Park-Hah JO, Iven H, Schmiegelow K, Branum E, O'Brien J, Weinshilboum R. Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. Clin Pharmacol Ther 1997; 62: 60-73.
- Kham SK, Soh CK, Liu TC, Chan YH, Ariffin H, Tan PL, Yeoh AE. Thiopurine S-methyltransferase activity in three major Asian populations: a population-based study in Singapore. Eur J Clin Pharmacol 2008; 64: 373-9.
- Ujiie S, Sasaki T, Mizugaki M, Ishikawa M, Hiratsuka M. Functional characterization of 23 allelic variants of thiopurine S-methyltransferase gene (TPMT*2-*24). Pharmacogenet Genomics 2008; 10: 887-93.
- Garat A, Cauffiez C, Renault N, Lo-Guidice JM, Allorge D, Chevalier D, Houdret N, Chavatte P, Loriot MA, Gala JL, Broly F. Characterisation of novel defective thiopurine S-methyltransferase allelic variants. Biochem Pharmacol 2008; 76: 404-15.