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PUMPA NEWSLETTER APRIL 2009 PURINE METABOLIC PATIENTS’ ASSOCIATION Registered Charity No 1019792 PUMPA’S SIXTEENTH ANNUAL GENERAL MEETING The PUMPA AGM held on the 15th November 2008, in the Histopathology Seminar Room, St Thomas’ Hospital was well attended. The Chairman presented the Trustees’ annual report covering the events of the year. PUMPA had welcomed four new members over the past year. All committee members agreed to remain in their current posts for 2009: Chairman: Hon. Treasurer: Hon. Secretary: Committee: Professor David Perrett (acting) Malcolm Reid Dr Bridget Bax (acting) Trish Bullen Lynette Fairbanks Nik Hoexter Margot Lucas Mary McBride. The AGM was followed by lunch and an extremely interesting seminar on ‘FOOD AND YOUR PURINE DISEASE’. The seminar began with a presentation by Professor David Perrett on why diet affects purine metabolism. Dr Liz Carrey then talked about the biochemistry of purines in foods. grow and multiply. Anti-metabolites also stop normal cells working properly. This is why patients get side effects. As many as 1 in 3 patients receiving 5-FU related therapy experience dose limiting, and sometimes life-threatening, toxicity that is largely avoidable. The reason why some patients experience severe side-effects is highly likely to be due to differences in genetic make-up. By predicting 5-FU or capecitabine toxicity, oncologists can provide enhanced therapeutic choices for improved patient outcomes (either by dose reduction or choice of alternative therapy). Dihydropyrimidine dehydrogenase (DPD) deficiency is a pharmacogenetic condition that results in toxicity when patients are exposed to 5-FU. This condition is due to variations in the DPYD gene, which encodes the DPD enzyme. Approximately 80-85% of therapeutically administered 5-FU is normally degraded through interaction with DPD, with the remaining 15% of active drug available to kill cells. In the absence of typical DPD activity, the expected amount of 5-FU is not degraded, potentially leading to significant patient toxicity. Dr Tony Marinaki of the Purine Research team then made a presentation about Diet in the treatment of purine disorders, and this was followed by Professor Jo Poulton from Oxford University who spoke of her experience of one case of thymidine phosphorylase deficiency and treatment with dietary restriction. Dr Lynette Fairbanks then gave a very interesting presentation on the association of fructose intake (the sugar found in soft drinks) and the increased risk of developing gout. This was followed by Mr Jeffrey James, who very kindly gave up his time to talk about his firsthand experience as a gout sufferer. PUMPA FUNDS RESEARCH INTO PREDICTING THE TOXICITY OF ANTI-CANCER DRUGS PUMPA recently made a research award to Dr Aathavan Loganayagam of the Purine Research Laboratory and Department of Gastroenterology at St. Thomas’ Hospital. His research aims to produce a simple test that will predict whether a patient has a predisposition to toxicity by chemotherapy drugs. 5-Fluorouracil (5-FU) and its pro-drug capecitabine are one of the most commonly used groups of drugs to treat cancer. These drugs are collectively termed the fluoropyrimidines. They are used to treat many types of cancer including, breast, head and neck, stomach, anal, colon and some skin cancers. The fluoropyrimidines are part of a group of chemotherapy drugs known as the anti-metabolites. Anti-metabolites are similar to normal body molecules but they are slightly different in structure. These differences mean that anti-metabolites stop cells working properly. Anti-metabolites often stop cells making and repairing DNA by inhibiting the synthesis of purine and pyrimidine components. Cancer cells need to make and repair DNA in order to Dr Aathavan Loganayagam at work in the Purine Research Laboratories Other genetic abnormalities have also been associated with fluoropyrimidine toxicity. Reduction in the activity of the 5-FU therapeutic target thymidylate sythetase (TS) and enzymes involved in folate metabolism, methylenetetrahydrofolate reductase (MTHFR), produced toxic effects that are clinically indistinguishable from that which is associated with DPD deficiency. It was previously thought DPD deficiency was not a significant problem in U.K population. However, at the Purine Research laboratory, Guy’s and St Thomas’ Hospital, we have from a cohort of 47 patients with severe toxicity following fluoropyrimidine therapy, identified that 20% carry a deleterious variation in the DPYD gene. Currently, 450 patients who have had fluoropyrimidine chemotherapy have been recruited. The aim is to identify the various deleterious variations in the DPYD as well as the other genes associated with severe fluoropyrimidine toxicity. The ultimate aim is to produce a simple test that will detect the various deleterious genetic variations, so that pre-treatment testing can be performed that will predict predisposition to fluoropyrimidine toxicity. This will guide oncologists as to the appropriate chemotherapy and dosage to be used. This would not only greatly improve the quality of life of cancer patients, but will also be cost-effective by reducing hospital admissions. Drug toxicity, for example, is a major healthcare cost and cause for prolonged length of hospital stay. SUBSCRIPTIONS With the New Year there comes the need for the renewal of subscriptions. Many members have already paid, often with a generous donation too, for which PUMPA is extremely grateful. If you have not renewed yet, please complete the form below and return it to PUMPA with your membership payment. Thank you. PUMPA WEBSITE To retain our standing with the Charity Commission, we need even more members and so we urge you to recruit a relative, friend or neighbour! Due to a large amount of interest in our series of PUMPA booklets “Caring for...” we have now made these available as PDF files on PUMPA’s website. In response to requests by PUMPA members, we have also added the speakers’ power point presentations from our 2008 seminar on ‘Food and your purine disease’. To view these please go to http://www.pumpa.org.uk. Please contact the secretary (address below) if you would like information about any local fund-raising efforts or news to be included in the next Newsletter or on the website. Photographs welcome too! MEMBERSHIP INFORMATION CHRIS AND PAULINE DOWIE RAISE FUNDS FOR PUMPA PUMPA recently received two cheques from Chris and Pauline Dowie, the proceeds from a fundraising music society choral workshop and lunch they arranged in Wimborne. PUMPA would like to say a big “Thank you” to Chris and Pauline for raising an impressive £132 for PUMPA. PUMPA members will be aware that Chris and Pauline have three children who all inherited Familial Juvenile Hyperuricaemic Nephropathy (FJHN). PUMPA is delighted to hear that after 15 years on dialysis and two previous failed kidney transplants, their youngest son Edward, was called in the small hours of Monday 9 th March 2009 by the Royal London Hospital to undergo a kidney transplantation. PUMPA wishes Edward all the very best for a successful transplantation, and a good recovery. NAME.....................................................................……. ADDRESS.................................................................….. ..................................................................................…… .....................................................................................…. ......................................................................................… Email.......................................................................…..… (Subscription £10 per adult/family) METHOD OF PAYMENT (Please tick) 1) Annually by cheque...................……… 2) Annually by Standing Order................. If the latter please inform your bank: In a recent email to PUMPA, Chris stated that he had unashamedly used Edward's kidney problems as a vehicle for making the subject of FJHN widely known to the general public. He has also composed music to celebrate certain landmarks in Edwards life - "Credo in unum Deum" celebrated the fact that he had made it through his first year of life against all the odds, and "From Darkness to Light" much later on to celebrate Ed's victory over adversity. PUMPA AWARDS INVESTIGATORS TRAVEL GRANTS TO YOUNG PUMPA has awarded £2,000 towards the attendance costs of three European young researchers who are to present their work at the forthcoming 13th International Symposium on Purine and Pyrimidine Metabolism, which is to be held in Sweden in June 2009. SUMMER WINE TASTING PUMPA’s annual tutored wine tasting has been provisionally booked for Friday 10th July 2009. Please WATCH THIS SPACE for further information! Name……………………………………………….. Branch Address……….…………………………….. to pay the National Westminster Bank PO Box 1 DW, 1 Portman Sq. London, W1A 1DW 60-16-39 14878607 Sort Code Account No 3) By covenant.............. 4) I am a UK taxpayer and wish my subscription, or any donations I make to PUMPA, to be treated as Gift Aid……………… Signature………………………………………….. PUMPA The Secretary, Dr Bridget Bax Clinical Developmental Sciences St. George’s University of London Cranmer Terrace London SW17 0RE Email: [email protected] Registered Charity No 1019792