Loes CA Rutten-Jacobs, Susanna C Larsson,, Rainer Malik,, Kristiina Rannikmäe, MEGASTROKE consortium, International Stroke Genetics Consortium, Cathie L Sudlow, Martin Dichgans, Hugh S Markus, professor2, Matthew Traylor
Researchers investigated whether a genetic risk score for stroke is associated with actual (“incident”) stroke in a large population of British adults.
They developed a genetic risk score based on 90 gene variants known to be associated with stroke from 306,473 white men and women in the UK Biobank – a database of biological information from half a million British adults.
Participants were aged between 40 and 73 years and had no history of stroke or heart attack. Adherence to a healthy lifestyle was based on four factors: non-smoker, diet rich in fruit, vegetables and fish, not overweight or obese (body mass index less than 30), and regular physical exercise.
A high genetic risk combined with an unfavourable lifestyle profile was associated with a more than twofold increased risk of stroke compared with a low genetic risk and a favourable lifestyle. Full story hereView publication
Publication: Nature Cell Biology
Vasileios I. Floros, Angela Pyle, Sabine Dietmann, Wei Wei, Walfred W. C. Tang, Naoko Irie, Brendan Payne, Antonio Capalbo, Laila Noli, Jonathan Coxhead, Gavin Hudson, Moira Crosier, Henrik Strahl, Yacoub Khalaf, Mitinori Saitou, Dusko Ilic, M. Azim Surani & Patrick F. Chinnery
15 Jan 2018; DOI: 10.1038/41556-017-0017-8
Researchers have shown for the first time how children can inherit a severe – potentially fatal – mitochondrial disease from a healthy mother. The study reveals that healthy people harbour mutations in their mitochondrial DNA and explains how cases of severe mitochondrial disease can appear unexpectedly in previously unaffected families.
Mitochondrial diseases caused by mutations in mitochondrial DNA are rare, affecting approximately 1 in 10,000 births, but can cause severe conditions. Mitochondria are the powerhouses inside our cells, producing energy and carrying their own DNA instructions (separate from the DNA in the nucleus of every cell) and are inherited from a person’s mother via the egg.
In this study, the researchers found that a variety of mutations were present in the mitochondrial DNA in the developing egg cells of all 12 of the human embryos studied, showing that low levels of mitochondrial DNA mutations are carried by healthy humans.View publication
Publication: The Lancet Neurology
Prof Andrew I R Maas*,’Correspondence information about the author Prof Andrew I R MaasEmail the author Prof Andrew I R Maas, Prof David K Menon*,’Correspondence information about the author Prof David K MenonEmail the author Prof David K Menon, P David Adelson, Nada Andelic, Michael J Bell, Antonio Belli, Peter Bragge, Alexandra Brazinova, András Büki, Randall M Chesnut, Giuseppe Citerio, Mark Coburn, D Jamie Cooper, A Tamara Crowder, Endre Czeiter, Marek Czosnyka, Ramon Diaz-Arrastia, Jens P Dreier, Ann-Christine Duhaime, Ari Ercole, Thomas A van Essen, Valery L Feigin, Guoyi Gao, Joseph Giacino, Laura E Gonzalez-Lara, Russell L Gruen, Deepak Gupta, Jed A Hartings, Sean Hill, Ji-yao Jiang, Naomi Ketharanathan, Erwin J O Kompanje, Linda Lanyon, Steven Laureys, Fiona Lecky, Harvey Levin, Hester F Lingsma, Marc Maegele, Marek Majdan, Geoffrey Manley, Jill Marsteller, Luciana Mascia, Charles McFadyen, Stefania Mondello, Virginia Newcombe, Aarno Palotie, Paul M Parizel, Wilco Peul, James Piercy, Suzanne Polinder, Louis Puybasset, Todd E Rasmussen, Rolf Rossaint, Peter Smielewski, Jeannette Söderberg, Simon J Stanworth, Murray B Stein, Nicole von Steinbüchel, William Stewart, Ewout W Steyerberg, Nino Stocchetti, Anneliese Synnot, Braden Te Ao, Olli Tenovuo, Alice Theadom, Dick Tibboel, Walter Videtta, Kevin K W Wang, W Huw Williams, Lindsay Wilson, Kristine Yaffe for the show InTBIR Participants and InvestigatorsView publication
Publication: Neurology Genetics
Lewis-Smith D, Kamer KJ, Griffin H, Childs A-M, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF. 2016: 2016 Mar 3;2(2):e59. PMID:27123478 PMCID: PMC4830195View publication
Publication: Genome Research
Keogh MJ, Wei W, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie C, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF 2017:27(1):165-173. PMID:28003435View publication
Publication: N Engl J Med
Hutchinson PJ, Kolias AG, Timofeev IS, Corteen E, Czosnyka M, Timothy J, Anderson I, Bulters DO, Belli A, Eynon CA, Wadley J, Mendelow AD, Mitchell PM, Wilson MH, Critchley G, Sahuquillo J, Unterberg A, Servadei F, Teasdale GM, Pickard JD, Menon DK, Murray GD, Kirkpatrick PJ 2016; 375:1119-1130View publication
Publication: J Cereb Blood Flow Metab
Helmy A, Guilfoyle MR, Carpenter KL, Pickard JD, Menon DK, Hutchinson PJ 2016 Aug;36(8):1434-48.View publication
Giovannoni G, Cohen JA, Coles AJ, Hartung HP, Havrdova E, Selmaj KW, Margolin DH, Lake SL, Kaup SM, Panzara MA, Compston DA; CARE-MS II Investigators.. 2016 Nov 8;87(19):1985-1992. PubMed PMID: 27733571; PubMed Central PMCID: PMC5109953View publication
Publication: Ann Surg
Fountain DM, Kolias AG, Lecky FE, Bouamra O, Lawrence T, Adams H, Bond SJ, Hutchinson PJ. 2016 Apr 4.View publication
Publication: Sci Transl Med
Dendrou CA, Cortes A, Shipman L, Evans HG, Attfield KE, Jostins L, Barber T, Kaur G, Kuttikkatte SB, Leach OA, Desel C, Faergeman SL, Cheeseman J, Neville MJ, Sawcer S, Compston A, Johnson AR, Everett C, Bell JI, Karpe F, Ultsch M, Eigenbrot C, McVean G, Fugger L. 2016 Nov 2;8(363):363ra149. PMID: 27807284View publication
Publication: Lancet Neurol
CADISS trial investigators, Markus HS, Hayter E, Levi C, Feldman A, Venables G, Norris J. 2015;14:361-7View publication
Arnold DL, Fisher E, Brinar VV, Cohen JA, Coles AJ, Giovannoni G, Hartung HP, Havrdova E, Selmaj KW, Stojanovic M, Weiner HL, Lake SL, Margolin DH, Thomas DR, Panzara MA, Compston DA; CARE-MS I and CARE-MS II Investigators 2016 Oct 4;87(14):1464-1472. PubMed PMID: 27590291; PubMed Central PMCID: PMC5075976View publication
Azzopardi L, Cox AL, McCarthy CL, Jones JL, Coles AJ.. J 2016 Jan;263(1):25-9. PubMed PMID: 26477020. Open Access repository Univ of Cambridge.View publication