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Thiopurine S-Methyltransferase
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'''TPMT''' or '''TPMTD''' or '''Thiopurine S-Methyltransferase''' or '''Thiopurine Methyltransferase''' refers to either a gene or the enzyme encoded by it.<ref name="genecards">{{Cite web|access-date=2022-04-07 | url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=TPMT&keywords=TPMT | title = TPMT Gene - Thiopurine S-Methyltransferase Protein Coding|website=Gene cards}}</ref> ==Function== TPMT has a role in the function of the immune system. ==Thiopurine methyltransferase deficiency == TPMT deficiency is a genetic condition that means that the enzymes that help process thiopurine drugs have reduced activity.<ref name="TPMTdeficiency">{{Cite web|website=Medline Plus|access-date=2022-04-08|url=https://medlineplus.gov/genetics/condition/thiopurine-s-methyltransferase-deficiency/ | title = Thiopurine S-methyltransferase deficiency}}</ref> If people with TPMT deficiency take thiopurine drugs, they are at inceased risk of bone marrow damage.<ref name="TPMTdeficiency" /> ===Thiopurine genetic testing=== TPMT [[genetic testing]] aims to improve climical outcomes and reduce harm in people with TPMT deficiency.<ref name="pharmacogenomics2022">{{Citation |url=https://www.bps.ac.uk/getmedia/b43a3dca-1bbf-4bff-9379-20bef9349a8c/Personalised-prescribing-full-report.pdf.aspx | last =((Royal College of Physicians)) | last2 = ((British Pharmacological Society)) | title = Personalised prescribing: using pharmacogenomics to improve patient outcomes. Report of a working party. |location=London|publisher=RCP and BPS | date = 2022}}</ref> ===Drug responses=== 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.<ref name="Lennard2013">{{Cite journal | title = Implementation of TPMT testing: TPMT testing | date = Apr 2014|url=https://onlinelibrary.wiley.com/doi/10.1111/bcp.12226|journal=British Journal of Clinical Pharmacology|volume=77|issue=4 | pages = 704β714 | last =Lennard | first = Lynne | author-link = |language=en|doi=10.1111/bcp.12226|pmc=PMC3971986|pmid=23962279|access-date=|quote=|via=}}</ref><ref name="medTPMT">{{Cite web|website=Medline Plus|access-date=2022-04-08 |url=https://medlineplus.gov/genetics/gene/tpmt/ | title = TPMT gene}}</ref> ==Thiopurines (drugs)== 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 disease]]s *some cancers, for example blood or immune cell cancers (leukemias, and lymphomas) * to help prevent the rejection of organ transplants after organ transplants<ref name="TPMTdeficiency" /> ==ME/CFS== Genetic studies of ME/CFS patients have not so far identified any TPMT genes as possibly associated with ME/CFS.<ref name="Dibble2020">{{Cite journal | title = Genetic risk factors of ME/CFS: a critical review | date = 2020-08-03|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530519/|journal=Human Molecular Genetics|volume=29|issue=R1|pages=R117βR124 | last =Dibble | first = Joshua J|author-link = | last2 = McGrath| first2 = Simon J | authorlink2 = Simon McGrath | last3 = Ponting | first3 = Chris P | authorlink3 = Chris Ponting|doi=10.1093/hmg/ddaa169|pmc=7530519|pmid=32744306|access-date=|issn=0964-6906|quote=|via=}}</ref> Thiopurine drugs have not been suggested as potentially useful for ME/CFS, and there is no guidance to avoid them.<ref name="canadianconsensus-CCC">{{Citation | last1 = Carruthers | first1 = Bruce M. | authorlink1 = Bruce Carruthers | last2 = Jain | first2 = Anil Kumar | authorlink2 = Anil Kumar Jain | last3 = De Meirleir | first3 = Kenny L. | authorlink3 = Kenny De Meirleir | last4 = Peterson | first4 = Daniel L. | authorlink4 = Daniel Peterson | last5 = Klimas | first5 = Nancy G. | authorlink5 = Nancy Klimas | last6 = Lerner | first6 = A. Martin | authorlink6 = Martin Lerner | last7 = Bested | first7 = Alison C. | authorlink7 = Alison Bested | last8 = Flor-Henry | first8 = Pierre | authorlink8 = Pierre Flor-Henry | last9 = Joshi | first9 = Pradip | authorlink9 = Pradip Joshi | last10 = Powles | first10 = AC Peter | authorlink10 = A C Peter Powles | last11 = Sherkey | first11 = Jeffrey A. | authorlink11 = Jeffrey Sherkey | last12 = van de Sande | first12 = Marjorie I. | authorlink12 = Marjorie van de Sande | title = Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: Clinical Working Case Definition, Diagnostic and Treatment Protocols| journal = Journal of Chronic Fatigue Syndrome | volume = 11 | issue = 2 | pages = 7-115 | date = 2003 | pmid = | doi = 10.1300/J092v11n01_02| url = http://www.investinme.org/Documents/PDFdocuments/CanadianDefinitionME-CFS.pdf}}</ref><ref name="ICC2011primer">{{citation | last1 = Carruthers | first1 = BM | authorlink1 = Bruce Carruthers | last2 = van de Sande | first2 = MI | authorlink2 = Marjorie van de Sande | last3 = De Meirleir | first3 = KL | authorlink3 = Kenny de Meirleir | last4 = Klimas | first4 = NG | authorlink4 = Nancy Klimas | last5 = Broderick | first5 = G | authorlink5 = Gordon Broderick | last6 = Mitchell | first6 = T | authorlink6 = Terry Mitchell | last7 = Staines | first7 = D | authorlink7 = Donald Staines | last8 = Powles | first8 = ACP | authorlink8 = A C Peter Powles | last9 = Speight | first9 = N | authorlink9 = Nigel Speight | last10 = Vallings | first10 = R | authorlink10 = Rosamund Vallings | last11 = Bateman | first11 = L | authorlink11 = Lucinda Bateman | last12 = Bell | first12 = DS | authorlink12 = David Bell | last13 = Carlo-Stella | first13 = N | authorlink13 = Nicoletta Carlo-Stella | last14 = Chia | first14 = J | authorlink14 = John Chia | last15 = Darragh | first15 = A | authorlink15 = Austin Darragh | last16 = Gerken | first16 = A | authorlink16 = Anne Gerken | last17 = Jo | first17 = D | authorlink17 = Daehyun Jo | last18 = Lewis | first18 = DP | authorlink18 = Donald Lewis | last19 = Light | first19 = AR | authorlink19 = Alan Light | last20 = Light | first20 = KC | authorlink20 = Kathleen Light | last21 = Marshall-Gradisnik | first21 = S | authorlink21 = Sonya Marshall-Gradisnik | last22 = McLaren-Howard | first22 = J | authorlink22 = John McLaren-Howard | last23 = Mena | first23 = I | authorlink23 = Ismael Mena | last24 = Miwa | first24 = K | authorlink24 = Kunihisa Miwa | last25 = Murovska | first25 = M | authorlink25= Modra Murovska | last26 = Stevens | first26 = SR | authorlink26 = Staci Stevens | title = Myalgic encephalomyelitis: Adult & Paediatric: International Consensus Primer for Medical Practitioners | date = 2012| isbn = 978-0-9739335-3-6 | url = http://www.investinme.org/Documents/Guidelines/Myalgic%20Encephalomyelitis%20International%20Consensus%20Primer%20-2012-11-26.pdf}}</ref><ref name="niceng206">{{Cite web|url=https://www.nice.org.uk/guidance/ng206 | title = Myalgic Encephalomyelitis (or Encephalopathy)/Chronic Fatigue Syndrome:diagnosis and management. NICE guideline. | last=NICE Guideline Development Group | first = | authorlink = |publisher=[[National Institute for Health and Care Excellence]] | date = 2021-10-29}}</ref> ==See also== *[[Genetic testing]] ==Learn more== *[https://medlineplus.gov/genetics/gene/tpmt/ TPMT gene] - MedlinePlus *[https://medlineplus.gov/genetics/condition/thiopurine-s-methyltransferase-deficiency/ Thiopurine S-methyltransferase deficiency] - MedlinePlus *[https://www.rarediseases.info.nih.gov/diseases/5173/thiopurine-s-methyltranferase-deficiency Thiopurine S methyltranferase deficiency] - Genetic and Rare Diseases Information Center *[https://www.genecards.org/cgi-bin/carddisp.pl?gene=TPMT&keywords=TPMT TPMT Gene] - Gene cards ==References== {{reflist}} [[Category:Genes]] [[Category:Enzymes]]
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