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; 375:1119-1130

Publication: J Cereb Blood Flow Metab

Helmy A, Guilfoyle MR, Carpenter KL, Pickard JD, Menon DK, Hutchinson PJ 2016 Aug;36(8):1434-48.

Publication: Neurology

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: PMC5109953

Publication: Ann Surg

Fountain DM, Kolias AG, Lecky FE, Bouamra O, Lawrence T, Adams H, Bond SJ, Hutchinson PJ. 2016 Apr 4.

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

Summary:

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.

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: 27807284

Publication: Lancet Neurol

CADISS trial investigators, Markus HS, Hayter E, Levi C, Feldman A, Venables G, Norris J. 2015;14:361-7

Publication: Neurology

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: PMC5075976

Publication: Bone

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. 2016

Publication: Appetite

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. 2016 Dec 1; 107: 596–603. pii: S0195-6663(16)30457-3.

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. 2016 Oct 4;7:13055. doi: 10.1038/ncomms13055

Publication: Proceedings of the National Academy of Sciences

Whitaker, K.J., Vértes, P.E., Romero-Garcia, R., Váša, F., Moutoussis, M., Prabhu, G., Weiskopf, N., Callaghan, M.F., Wagstyl, K., Rittman, T., Tait, R., Suckling, J., Ooi, C., Inkster, B., Fonagy, P., Dolan, R., Goodyer, I.M., Jones, P.B., the NSPN Consortium, Bullmore, E.T. 2016 , 113(32), pp.9105-9110.