Thiopurine S-Methyltransferase
TPMT or TPMTD or Thiopurine S-Methyltransferase or Thiopurine Methyltransferase refers to either a gene or the enzyme encoded by it.[1]
Function[edit | edit source]
TPMT has a role in the function of the immune system.
Thiopurine methyltransferase deficiency[edit | edit source]
TPMT deficiency is a genetic condition that means that the enzymes that help process thiopurine drugs have reduced activity.[2] If people with TPMT deficiency take thiopurine drugs, they are at inceased risk of bone marrow damage.[2]
Thiopurine genetic testing[edit | edit source]
TPMT genetic testing aims to improve climical outcomes and reduce harm in people with TPMT deficiency.[3]
Drug responses[edit | edit source]
Thiopurines are relatively common drugs, but thiopurine methyltransferase deficiency studies have found that 1 in 300 people have no thiopurine methyltransferase enzyme activity, and 11% have reduced activity.[4][5]
Thiopurines (drugs)[edit | edit source]
Thiopurine drugs suppress immune system, they include:
- 6-thioguanine
- 6-mercaptopurine
- azathioprine
Thiopurine drugs are used to treat:
- Crohn's disease
- Rheumatoid arthritis
- certain other autoimmune diseases
- some cancers, for example blood or immune cell cancers (leukemias, and lymphomas)
- to help prevent the rejection of organ transplants after organ transplants[2]
ME/CFS[edit | edit source]
Genetic studies of ME/CFS patients have not so far identified any TPMT genes as possibly associated with ME/CFS.[6]
Thiopurine drugs have not been suggested as potentially useful for ME/CFS, and there is no guidance to avoid them.[7][8][9]
See also[edit | edit source]
Learn more[edit | edit source]
- TPMT gene - MedlinePlus
- Thiopurine S-methyltransferase deficiency - MedlinePlus
- Thiopurine S methyltranferase deficiency - Genetic and Rare Diseases Information Center
- TPMT Gene - Gene cards
References[edit | edit source]
- ↑ "TPMT Gene - Thiopurine S-Methyltransferase Protein Coding". Gene cards. Retrieved April 7, 2022.
- ↑ 2.0 2.1 2.2 "Thiopurine S-methyltransferase deficiency". Medline Plus. Retrieved April 8, 2022.
- ↑ Royal College of Physicians; British Pharmacological Society (2022), Personalised prescribing: using pharmacogenomics to improve patient outcomes. Report of a working party., London: RCP and BPS
- ↑ Lennard, Lynne (April 2014). "Implementation of TPMT testing: TPMT testing". British Journal of Clinical Pharmacology. 77 (4): 704–714. doi:10.1111/bcp.12226. PMC 3971986. PMID 23962279.
- ↑ "TPMT gene". Medline Plus. Retrieved April 8, 2022.
- ↑ Dibble, Joshua J; McGrath, Simon J; Ponting, Chris P (August 3, 2020). "Genetic risk factors of ME/CFS: a critical review". Human Molecular Genetics. 29 (R1): R117–R124. doi:10.1093/hmg/ddaa169. ISSN 0964-6906. PMC 7530519. PMID 32744306.
- ↑ Carruthers, Bruce M.; Jain, Anil Kumar; De Meirleir, Kenny L.; Peterson, Daniel L.; Klimas, Nancy G.; Lerner, A. Martin; Bested, Alison C.; Flor-Henry, Pierre; Joshi, Pradip; Powles, AC Peter; Sherkey, Jeffrey A.; van de Sande, Marjorie I. (2003), "Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: Clinical Working Case Definition, Diagnostic and Treatment Protocols" (PDF), Journal of Chronic Fatigue Syndrome, 11 (2): 7–115, doi:10.1300/J092v11n01_02
- ↑ Carruthers, BM; van de Sande, MI; De Meirleir, KL; Klimas, NG; Broderick, G; Mitchell, T; Staines, D; Powles, ACP; Speight, N; Vallings, R; Bateman, L; Bell, DS; Carlo-Stella, N; Chia, J; Darragh, A; Gerken, A; Jo, D; Lewis, DP; Light, AR; Light, KC; Marshall-Gradisnik, S; McLaren-Howard, J; Mena, I; Miwa, K; Murovska, M; Stevens, SR (2012), Myalgic encephalomyelitis: Adult & Paediatric: International Consensus Primer for Medical Practitioners (PDF), ISBN 978-0-9739335-3-6
- ↑ NICE Guideline Development Group (October 29, 2021). "Myalgic Encephalomyelitis (or Encephalopathy)/Chronic Fatigue Syndrome:diagnosis and management. NICE guideline". National Institute for Health and Care Excellence.
