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Texto: Study decodes gene function that protects against type 2 diabetes — Radcliffe Department of Medicine Cookies on this website We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings. Continue Find out more Skip to main content Site Map Accessibility Cookies Contact us Log in Menu Home Contact us About us Our Divisions Our Clinical Facilities and MRC Units Working at RDM Athena SWAN News Seminars Locations and contact details Research People Study with us Work with us Current vacancies Novo Nordisk - Oxford Fellowships For Staff Contacts, travel and maps Personnel Finance, Grants and Funding Facilities, IT and Health and Safety Graduate Studies Career Development Athena SWAN Communications and public engagement Search News Study decodes gene function that protects against type 2 diabetes Study decodes gene function that protects against type 2 diabetes Department General OCDEM Publication Research 5 November 2019 An international research collaboration led by researchers from the Universities of Helsinki and Oxford has identified the biological mechanism through which a genetic variant protects against type 2 diabetes. The study, published in the journal Nature Genetics , finds that changes in a gene which makes zinc transporter proteins reduce the risk of type 2 diabetes by enhancing insulin secretion from the pancreas. Type 2 diabetes affects almost 400 million people across the world. It is caused by a combination of lifestyle as well as genetic factors which together result in high blood sugar levels. One such genetic factor is a variation in a gene called SLC30A8, which encodes a protein which carries zinc. This protein is important, because zinc is essential for ensuring that insulin, (the only hormone that can reduce blood sugar levels) has the right shape in the beta-cells of the pancreas. Researchers have known for almost ten years that changes in this gene can reduce the risk of getting type 2 diabetes, but not how this happened. They now recruited new members from families with a rare mutation in the SLC30A8 gene to study how they responded to sugar in a meal. “A definite strength of our study is we could study families. We could compare people with the mutation with their relatives who do not have the mutation, but who have similar genetic background and life-style”, said Departmental chief doctor Tiinamaija Tuomi from the Helsinki University Hospital, who co-led the study. “This way, we could make sure that the effects we were seeing were definitely because of this gene, and not because of another genetic or life-style factor.” The results showed that people with the mutation have higher insulin and lower blood sugar levels, reducing their risk for diabetes. An international collaboration of 50 researchers also studied pancreatic cells with and without the mutation in the lab, and carried out experiments in mice and human cellular material to understand exactly what was happening when the function of the SLC30A8 gene changed. Opening up new ways of preventing and treating type 2 diabetes “The work is a collaborative effort bringing pharma and academia together and researchers from multiple European Countries”, said Professor Anna Gloyn , who co-led the study, from the Wellcome Centre for Human Genetics, University of Oxford. It is a tour de force, since we were able to measure the impact of the mutation in many different systems, including human beta-cells - Professor Anna Gloyn “We found that this mutation had collateral consequences on key functions of pancreatic beta cells and during embryonic development. Importantly, this study exposes the extraordinary molecular complexity behind a specific gene variation conferring risk or protection from type 2 diabetes” said Dr Benoit Hastoy , co-first author from the Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford. “Taken together, the human and model system data show enhanced glucose-stimulated insulin secretion combined with enhanced conversion of the prehormone proinsulin to insulin as the most likely explanation for protection against type 2 diabetes”, said Om Prakash Dwidedi, the co- first author of the study from the Institute for Molecular Medicine Finland (FIMM), University of Helsinki. Better understanding of the genetic and pathological mechanism behind diabetes can open up new ways of preventing or treating type 2 diabetes. “Our results position this zinc transporter as an appealing and safe target for antidiabetic therapies. If a drug can be developed that mimics the protective effect of this mutation, beta-cell function could be preserved and the insulin secretion capacity in diabetic patients maintained”, said Professor Leif Groop from the University of Helsinki and the Lund University who directed the study. The study was done in collaboration with researchers from the University of Helsinki, Helsinki University Hospital, Folkhälsan Research Center, Lund University, University of Oxford, Imperial College London as well as Pfizer Inc. and Regeneron Pharmaceuticals. Read the full paper .  We want to hear about your news! Publishing a paper? Just won an award? Get in touch with communications@rdm.ox.ac.uk   Connect with us © 2019 Radcliffe Department of Medicine Freedom of Information Privacy Policy Copyright Statement Accessibility Statement Contact us Our Divisions Investigative Medicine Division Nuffield Division of Clinical Laboratory Sciences Oxford Centre for Diabetes, Endocrinology and Metabolism Division of Cardiovascular Medicine MRC Weatherall Institute of Molecular Medicine MRC Weatherall Institute of Molecular Medicine Our Clinical Facilities and MRC Units Acute Vascular Imaging Centre Cardiovascular Clinical Research Facility Oxford Centre for Clinical Magnetic Resonance Research Oxford Centre for Haematology Working at RDM Equal career opportunities and flexible working Career development and training Athena SWAN News Seminars Locations and contact details Research Cardiovascular Science Haematology and Pathology Diabetes, Metabolism and Endocrinology Cancer Biology Immunology and Infection Stem Cells and Developmental Biology Geratology Experimental Therapeutics Ashrafian Group: Experimental Therapeutics and Clinical Pharmacology Mahmod group Tyler Group Lunter Group: Functional Genomics & Machine Learning Lunter Group People Moustafa Abdalla Ines Abdesselam Adib Abdullah Zahra Aboukhalil Amanda Adler Satish Adwani Devika Agarwal Olorunsola Agbaje Doaa Ahmed Jila Ajeian Nadia Akawi Naveed Akbar Nasren Akhtar Ioannis Akoumianakis Merve Aksoz Marta Perez Alcantara Yara Alenazi Jack Allen Maryam Alsharqi Sneha Anand Amanda Anderson Agata Antepowicz Charalambos Antoniades Alex Antonopoulos Mahesh Appari Andrew Apps Janhavi Apte Rina Ariga Andrew Armitage Alyssa Armsby Linda Arnold Ritu Arya James Ashford Neil Ashley Nicole Ashman Houman Ashrafian Kate Attfield Christian Babbs Mohsin Badat Ileana Badi Jade Bailey Subita Balaram Abhirup Banerjee Alison Banham Adrian Banning Liliana Barbieri Mike Barnkob Amy Barrett Carole Bataille Matthew Baxter Asha Bayliss Robert Beagrie Daniel Beard John Bell John Bell Elena Benedetto Amanda Bennett Felicity Bennett Nicolas Bery Timothy Betts Ryan Beveridge Shoumo Bhattacharya William Biggs Malenka Bissell Edward Blair Henry Blest Nicholas Blockley Henry Boardman Andrea Borghetto Alessandra Borlotti Jacqueline Boultwood Yavor Bozhilov Adam Braithwaite Robert Brand Matt Brechin Serena Briant Linford Briant Anne Bridgeman Paul Brodersen James Brown Jill Brown Connor Broyles Marella de Bruijn Alastair Buchan Veronica Buckle Paul Buckley Daniel Bulte Martijn van de Bunt Mario Buono Holger Burchert Emma Burke-Smith Oliver Burns Matthew Burrage Shijie Cai David Cain Sarah Califano Ivan Candido-Ferreira Fang Cao Maria Carena Maria Carena Ricardo Carnicer Davide Carone Joana Carrelha Brigid Carter Barbara Casadei Carla Cascone Vincenzo Cerundolo Kuan Cha Hedia Chagraoui Keith Channon Lise Chauveau Jane Cheeseman Yi-Ling Chen Jili Chen Qian Cheng Amy Chiu Robin Choudhury Constantinos Christodoulides Zoe Christodoulou Sandy Chu Surawee Chuaiphichai Aldo Ciau-Uitz Thomas Clague Sally-Ann Clark Kevin Clark Lynn Clee Liz Cloke Christopher Cole Ruth Coleman Huw Colin-York Ismael da Conceicao Catriona Conway Daniel Cooke Kerrie Cope Anna Corby Thomas Cornfield Eduardo Calpena Corpas Yvonne Couch Mark Crabtree Heidi Crook Eloise Cross Nicholas Crump Andres Hueso Cuervo Melinda Czéh Liangti Dai Andrea van Dam Rinita Dam Matt Daniels Carol Davey James Davies Graham Davies Simon Davis James Dean Rebecca Dean Niall Dempster Louise Dennis Timothy Dent Geoffrey Denwood Michael Desborough Veronica Alcolea Devesa Matthew Dickinson Marina Diotallevi Tomasz Dobrzycki Cameron Dockerill Michael Dodd Kathleen Dolan Hamid Dolatshad Robert Friedrich Donat Tao Dong Patricia Douglas Gillian Douglas Damien Downes Hal Drakesmith Roy Drissen Edward Drydale Yue Du Claire Duff Sam Dunkley Pamela Dyson James Early James Eaton Carol Eaton Laurienne Edgar Christian Eggeling Mehroz Ehsan Jane Ellis Hanif Esmail Lise Estcourt Rachel Etherington Mark Evans Tracey Evans Martyn Ezra Anne Farmer Martin Farrall Martin Fellermeyer Candida Fenton David Ferguson João Ferreira Fernandes Vanessa Ferreira Lucy Field Alison Fletcher Gary Ford Nicholas Fordham Helena Francis John Frankland Rachel Franklin Joe Frost Xiaopeng Fu Lars Fugger Lars Fugger Tudor Fulga Kezia Gaitskell Parag Gajendragadkar Silvia Galiani Toby Gamlen Jonathan Gamwell Wei Gan Wei Gan Syed Gardezi Tina Garland Katja Gehmlich Cristina Di Genua Charlotte George Sahar Ghaffari Richard Gibbons Maria Giebler Deborah Gill Anne Gilligan Anna Gloyn Anna Gluck Anuj Goel Tomas Goncalves Claudia Gonzalez-Lopez Sarah Gooding Anne Goriely Matthew Gosden Stephen Gough Stephen Gough Michelle Gould Christopher Grace Deanne Gracias Andrew Graham David Grainger Nicki Gray Felicity Green


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248 www.rdm.ox.ac.uk/people/tomasz-dobrzycki
249 www.rdm.ox.ac.uk/people/cameron-dockerill
250 www.rdm.ox.ac.uk/people/michael-dodd
251 www.rdm.ox.ac.uk/people/kathleen-dolan
252 www.rdm.ox.ac.uk/people/hamid-dolatshad
253 www.rdm.ox.ac.uk/people/robert-friedrich-donat
254 www.rdm.ox.ac.uk/people/tao-dong
255 www.rdm.ox.ac.uk/people/patricia-douglas
256 www.rdm.ox.ac.uk/people/gillian-douglas
257 www.rdm.ox.ac.uk/people/damien-downes
258 www.rdm.ox.ac.uk/people/alexander-drakesmith
259 www.rdm.ox.ac.uk/people/roy-drissen
260 www.rdm.ox.ac.uk/people/edward-drydale
261 www.rdm.ox.ac.uk/people/yue-du
262 www.rdm.ox.ac.uk/people/claire-duff
263 www.rdm.ox.ac.uk/people/samuel-dunkley
264 www.rdm.ox.ac.uk/people/pamela-dyson
265 www.rdm.ox.ac.uk/people/james-early
266 www.rdm.ox.ac.uk/people/james-eaton
267 www.rdm.ox.ac.uk/people/carol-eaton
268 www.rdm.ox.ac.uk/people/laurienne-gardner
269 www.rdm.ox.ac.uk/people/christian-eggeling
270 www.rdm.ox.ac.uk/people/mehroz-ehsan
271 www.rdm.ox.ac.uk/people/jane-ellis
272 www.rdm.ox.ac.uk/people/hanif-esmail
273 www.rdm.ox.ac.uk/people/lise-estcourt
274 www.rdm.ox.ac.uk/people/rachel-etherington
275 www.rdm.ox.ac.uk/people/mark-evans
276 www.rdm.ox.ac.uk/people/tracey-evans
277 www.rdm.ox.ac.uk/people/martyn-ezra
278 www.rdm.ox.ac.uk/people/anne-farmer
279 www.rdm.ox.ac.uk/people/martin-farrall
280 www.rdm.ox.ac.uk/people/martin-fellermeyer
281 www.rdm.ox.ac.uk/people/candida-fenton
282 www.rdm.ox.ac.uk/people/david-ferguson
283 www.rdm.ox.ac.uk/people/joao-ferreira-fernandes
284 www.rdm.ox.ac.uk/people/vanessa-ferreira
285 www.rdm.ox.ac.uk/people/lucy-field
286 www.rdm.ox.ac.uk/people/alison-fletcher
287 www.rdm.ox.ac.uk/people/gary-ford
288 www.rdm.ox.ac.uk/people/nicholas-fordham
289 www.rdm.ox.ac.uk/people/helena-francis
290 www.rdm.ox.ac.uk/people/john-frankland
291 www.rdm.ox.ac.uk/people/rachel-franklin
292 www.rdm.ox.ac.uk/people/joe-frost
293 www.rdm.ox.ac.uk/people/xiaopeng-fu
294 www.rdm.ox.ac.uk/people/lars-fugger
295 www.rdm.ox.ac.uk/people/lars-fugger-1
296 www.rdm.ox.ac.uk/people/tudor-fulga
297 www.rdm.ox.ac.uk/people/kezia-gaitskell
298 www.rdm.ox.ac.uk/people/parag-gajendragadkar-1
299 www.rdm.ox.ac.uk/people/silvia-galiani
300 www.rdm.ox.ac.uk/people/toby-gamlen-1
301 www.rdm.ox.ac.uk/people/jonathan-gamwell
302 www.rdm.ox.ac.uk/people/wei-gan
303 www.rdm.ox.ac.uk/people/weigan
304 www.rdm.ox.ac.uk/people/syed-gardezi
305 www.rdm.ox.ac.uk/people/tina-garland
306 www.rdm.ox.ac.uk/people/katja-gehmlich
307 www.rdm.ox.ac.uk/people/cristina-di-genua
308 www.rdm.ox.ac.uk/people/charlotte-george
309 www.rdm.ox.ac.uk/people/sahar-ghaffari
310 www.rdm.ox.ac.uk/people/richard-gibbons
311 www.rdm.ox.ac.uk/people/maria-giebler
312 www.rdm.ox.ac.uk/people/deborah-gill
313 www.rdm.ox.ac.uk/people/anne-gilligan
314 www.rdm.ox.ac.uk/people/anna-gloyn
315 www.rdm.ox.ac.uk/people/anna-gluck
316 www.rdm.ox.ac.uk/people/anuj-goel
317 www.rdm.ox.ac.uk/people/tomas-goncalves
318 www.rdm.ox.ac.uk/people/claudia-gonzalez-lopez
319 www.rdm.ox.ac.uk/people/sarah-gooding
320 www.rdm.ox.ac.uk/people/anne-goriely
321 www.rdm.ox.ac.uk/people/matthew-gosden
322 www.rdm.ox.ac.uk/people/stephen-gough
323 www.rdm.ox.ac.uk/people/stephen-gough-1
324 www.rdm.ox.ac.uk/people/michelle-gould
325 www.rdm.ox.ac.uk/people/christopher-grace
326 www.rdm.ox.ac.uk/people/deanne-gracias
327 www.rdm.ox.ac.uk/people/andrew-graham
328 www.rdm.ox.ac.uk/people/david-grainger
329 www.rdm.ox.ac.uk/people/nicki-gray
330 www.rdm.ox.ac.uk/people/felicity-green



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