Diabetes mellitus and other pathology in patients with INS and INSR mutations
https://doi.org/10.14341/2072-0351-5532
Abstract
References
1. Nanjo K, Sanke T, Miyano M, Okai K, Sowa R, Kondo M, Nishimura S, Iwo K, Miyamura K, Given BD, et al. Diabetes due to secretion of a structurally abnormal insulin (insulin Warayama). J Clin Invest. 1986 Feb;77(2):514-519.a
2. Warren-Perry MG, Manley SE, Ostrega D, Polonsky K, Mussett S, Brown P, Turner RC. A novel point mutation in the insulin gene giving rise to hyperproinsulinemia. J Clin Endocrinol Metab. 1997 May;82(5):1629-1631.
3. Russo L, Iafusco D, Brescianini S, Nocerino V, Bizzarri C, Toni S, Cerutti F, Monciotti C, Pesavento R, Iughetti L, Bernardini L, Bonfanti R, Gargantini L, Vanelli M, Aguilar-Bryan L, Stazi MA, Grasso V, Colombo C, Barbetti F; ISPED Early Diabetes Study Group. Permanent diabetes during the first year of life: multiple gene screening in 54 patients. Diabetologia. 2011 Jul;54(7):1693-1701. doi: 10.1007/s00125-011- 2094-8. Epub 2011 Mar 10.
4. Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-15044. Epub 2007 Sep 12.
5. Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Støy J, Steiner DF, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S. Insulin mutation screening in 1,044 patients with diabetes. Mutations in the INS gene are a common cause of neatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes. 2008 Apr;57(4):1034-1042. Epub 2007 Dec 27.
6. Colombo C, Porzio O, Liu M, Massa O, Vasta M, Salardi S, Beccaria L, Monciotti C, Toni S, Pedersen O, Hansen T, Federici L, Pesavento R, Cadario F, Federici G, Ghirri P, Arvan P, Iafusco D, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (SIEDP). Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus. J Clin Invest. 2008 Jun;118(6):2148-2156. doi: 10.1172/JCI33777.
7. Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, del Castillo G, Deeb A, Deiss D, Fernandez JM, Godbole K, Hussain K, O'Connell M, Klupa T, Kolouskova S, Mohsin F, Perlman K, Sumnik Z, Rial JM, Ugarte E, Vasanthi T; Neonatal Diabetes International Group, Johnstone K, Flanagan SE, Martínez R, Castaño C, Patch AM, Fernández-Rebollo E, Raile K, Morgan N, Harries LW, Castaño L, Ellard S, Ferrer J, Perez de Nanclares G, Hattersley AT. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3105-3110. doi: 10.1073/ pnas.0910533107. Epub 2010 Jan 28.
8. Raile K, O'Connell M, Galler A, Werther G, Kühnen P, Krude H, Blankenstein O. Diabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals. Eur J Endocrinol. 2011 Aug;165(2):255-260. doi: 10.1530/EJE-11-0208. Epub 2011 May 12.
9. Ebina Y, Ellis L, Jarnagin K, Edery M, Graf L, Clauser E, Ou JH, Masiarz F, Kan YW, Goldfine ID, et al. The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signaling. Cell. 1985 Apr;40(4):747- 758.
10. Koller EA, Accili D, Taylor S. Mutations in the insulin receptor gene in insulin resistant patients. In book "Molecular endocrinology. Basic concept and clinical correlations" Ed. Weintraub BD. New York: Raven Press; 1995. P. 283 - 296. (Коллер ЭА, Аксили Д, Тейлор СИ. Мутации в гене рецептора инсулина у пациентов с инсулинорезистентностью. В кн. Молекулярная эндокринология. Фунда- ментальные исследования и их отражение в клинике. Ред. Вайнтрауб БД. Москва: «Медицина»; 2003. C. 277 - 290.)
11. Sleigh A, Raymond-Barker P, Thackray K, Porter D, Hatunic M, Vottero A, Burren C, Mitchell C, McIntyre M, Brage S, Carpenter TA, Murgatroyd PR, Brindle KM, Kemp GJ, O'Rahilly S, Semple RK, Savage DB. Mitochondrial dysfunction in patients with primary congenital insulin resistance. J Clin Invest. 2011 Jun;121(6):2457-2461. doi: 10.1172/JCI46405. Epub 2011 May 9.
12. Højlund K, Beck-Nielsen H, Flyvbjerg A, Frystyk J. Characterisation of adiponectin multimers and the IGF axis in humans with a heterozygous mutation in the tyrosine kinase domain of the insulin receptor gene. Eur J Endocrinol. 2012 Mar;166(3):511-519. doi: 10.1530/EJE-11-0790. Epub 2011 Dec 21.
13. Raffan E, Soos MA, Rocha N, Tuthill A, Thomsen AR, Hyden CS, Gregory JW, Hindmarsh P, Dattani M, Cochran E, Al Kaabi J, Gorden P, Barroso I, Morling N, O'Rahilly S, Semple RK. Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling. Diabetologia. 2011 May;54(5):1057-1065. doi: 10.1007/ s00125-011-2066-z. Epub 2011 Feb 12.
14. Hamer I, Foti M, Emkey R, Cordier-Bussat M, Philippe J, De Meyts P, Maeder C, Kahn CR, Carpentier JL. An arginine to cysteine(252) mutation in insulin receptors from a patients with severe insulin resistance inhibits receptor internalization but preserves signaling events. Diabetologia. 2002 May;45(5):657-667. Epub 2002 Apr 5.
15. Takahashi I, Yamada Y, Kadowaki H, Horikoshi M, Kadowaki T, Narita T, Tsuchida S, Noguchi A, Koizumi A, Takahashi T. Phenotypical variety of insulin resistance in a family with a novel mutation of the insulin receptor gene. Endocr J. 2010;57(6):509-516. Epub 2010 Mar 25.
16. Atabek ME, Pirgon O. Some effect of metformin on insulin resistance in an infant with leprechaunism. J Pediatr Endocrinol Metab. 2006 Oct;19(10):1257-1261.
17. Thiel CT, Knebel B, Knerr I, Sticht H, Müller-Wieland D, Zenker M, Reis A, Dörr HG, Rauch A. Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rаbson-Mendenhall syndrome. Mol Genet Metab. 2008 Jul;94(3):356-362. doi: 10.1016/j.ymgme.2008.02.013. Epub 2008 Apr 14.
18. Tuthill A, Semple RK, Day R, Soos MA, Sweeney E, Seymour PJ, Didi M, O'rahilly S. Functional characterization of a novel insulin receptor mutation contributing to Rаbson-Mendenhall syndrome. Clin Endocrinol (Oxf). 2007 Jan;66(1):21-6.
19. Shulman GI. Cellular mechanisms of insulin resistance. J Clin Invest. 2000 Jul;106(2):171-176.
Review
For citations:
Pankov Yu.A. Diabetes mellitus and other pathology in patients with INS and INSR mutations. Diabetes mellitus. 2012;15(4):11-16. (In Russ.) https://doi.org/10.14341/2072-0351-5532

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND 4.0).