The latest list of publications from the Cambridge Biomedical Research Centre with a brief summary.
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
21 December 2016View 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
22 September 2016View publication
Publication: J Cereb Blood Flow Metab
Helmy A, Guilfoyle MR, Carpenter KL, Pickard JD, Menon DK, Hutchinson PJ
1 December 2015View 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
8 November 2016View publication
Publication: Ann Surg
Fountain DM, Kolias AG, Lecky FE, Bouamra O, Lawrence T, Adams H, Bond SJ, Hutchinson PJ.
March 2017View 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 January 2018
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: 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.
2 November 2016View publication
Publication: Lancet Neurol
CADISS trial investigators, Markus HS, Hayter E, Levi C, Feldman A, Venables G, Norris J.
12 February 2015View 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
4 October 2016View publication
Poole KE, Skingle L, Gee AH, Turmezei TD, Johannesdottir F, Blesic K, Rose C, Vindlacheruvu M, Donell S, Vaculik J, Dungl P, Horak M, Stepan JJ, Reeve J, Treece GM.
21 October 2016View publication
Joost Overduin, Tinh-Hai Collet, Nenad Medic, Elana Henning , Julia M. Keogh, Faye Forsyth, Cheryl Stephenson, Marja W. Kanning, Rianne M.A.J. Ruijschop, I. Sadaf Farooqi, Agatha A. van der Klaauw.
1 December 2016View publication
Publication: Nat Comms
Agatha A. van der Klaauw, Julia M. Keogh, Elana Henning, Cheryl Stephenson, Sarah Kelway, Victoria M. Trowse, Naresh Subramanian, Stephen O’Rahilly, Paul C. Fletcher, I. Sadaf Farooqi.
4 October 2016View publication