Monogennye formy sakharnogo diabeta


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Abstract

Monogenic forms of diabetes are rare pathologies among various disorders of carbohydrate metabolism. Currently, these include variants associated with genetic disorders of function of pancreatic β-cells and/or factors involved in glucose metabolism. This review presents data on the etiopathogenesis of 11 variants of MODY-type diabetes mellitus and major causes of neonatal diabetes mellitus.

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References

  1. Ellard S., Bellanne-Chantelot C., Hattersley A.T., and European Molecular Genetics Quality Network (EMQN) MODY group (2008). Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 2008;51(4):546-53.
  2. Tattersall R.B. Mild familial diabetes with dominant inheritance. Q J Med 1974;43:339-57.
  3. Frayling T.M., Evans J.C., Bulman M.P., et al. beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes 2001;50(1):S94-S100.
  4. Pearson E.R., Velho G., Clark P., et al. β-Cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1α and glucokinase mutations. Diabetes 2001;50(1):S101-07.
  5. Massa O., Meschi F., Cuesta-Munoz A., et al. Italian Society of Paediatic Endocrinology and Diabetes (SIEDP). High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetologia 2001;44:898-905.
  6. Ellard S., Colclough K. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat 2006;27:854-69.
  7. Matschinsky F.M. Regulation of pancreatic betacell glucokinase: from basics to therapeutics. Diabetes 2002;51:S394-S404.
  8. Matschinsky F.M. Glucokinase, glucose homeostasis, and diabetes mellitus. Curr Diab Rep 2005;5:171-76.
  9. Osbak K.K., Colclough K., Saint-Martin C., et al. Update on mutations inglucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat 2009;30:1512-26.
  10. Shih D.Q., Stoffel M. Dissecting the transcriptional network of pancreatic islets during development and differentiation. Proc Natl Acad Sci USA 2001;98: 14189-91.
  11. Pontoglio M., Prie D., Cheret C., et al. HNF1a controls renal glucose reabsorption in mouse and man. EMBO Rep 2000;1:359-36.
  12. Vaxillaire M., Froguel P. Genetic basis of maturity-onset diabetes of the young. Endocrinol Metab Clin North Am 2006;35:371-84.
  13. Pearson E.R., Starkey B.J., Powell R.J., et al. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet 2003;362:1275-82.
  14. Pearson E.R., Pruhova S., Tack C., et al. Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor-4α mutations in a large European collection. Diabetologia 2005;48:878-85.
  15. Pearson E.R., Boj S.F., Steele A.M., et al. Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene. Plos Medicine 2007;4(4).
  16. Horikawa Y., Iwasaki N., Hara M., et al. (Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet 1997;17:384-85.
  17. Bellanne-Chantelot C., Chauveau D., Gautier J.F. Dubois-Laforgue D, et al. Clinical spectrum associated with hepatocyte nuclear factor-1β mutations. Ann Intern Med 2004;140:510-17.
  18. Stoffers D.A., Ferrer J., Clarke W.L., Habener J.F. Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet 1997;17:138-39.
  19. Liu L., Furuta H., Minami A., et al. A novel mutation, Ser159Pro, in the NeuroD1/BETA2 gene contributes to the development of diabetes in a Chinese potential MODY family. Mol Cell Biochem 2007;303:115-20.
  20. Neve B., Fernandez-Zapico M.E., Ashkenazi-Katalan V., et al. Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function. Roc Natl Acad Sci USA 2005;29; 102(13):4807-12.
  21. Bengtsson-Ellmark S.H., Nilsson J., Orho-Melander M., et al. Association between a polymorphism in the carboxyl ester lipase gene and serum cholesterol profile. Eur J Hum Genet 2004;12:627-32.
  22. Plengvidhya N., Kooptiwut S., Songtawee N., et al. PAX4 mutations in Thais with maturity onset diabetes of the young. J Clin Endocrinol Metab 2007;92: 2821-26.
  23. Molven A., Ringdal M., Nordbo A., et al. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes 2008;57: 1131-35.
  24. Borowiec M., Liew C.W., Thompson R., et al. Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. Proc Nat Acad Sci 2009;106: 14460-65.
  25. Flechtner I., Vaxillaire M., Cave H., et al. Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences. Endocr Dev 2007;12:86-98.
  26. Arthur E.I., Zlotogora J., Lerer I., et al. Transient neonatal diabetes mellitus in a child with invdup (6)(q22q23) of paternal origin. Eur J Hum Genet 1997;5:417-19.
  27. Rubio-Cabezas O., Klupa T., Malecki M.T., CEED3 Consortium. Permanent neonatal diabetes mellitus the importance of diabetes differential diagnosis in neonates and infants. Eur J Clin Invest 2011;41:323-33.
  28. Suzuki S., Makita Y., Mukai T., et al. Molecular basis of neonatal diabetes in Japanese patients. J Clin Endocrinol Metab 2007;92:3979-85.
  29. Temple I.K., Mackay D.J.G. Diabetes Mellitus, 6q24-Related Transient Neonatal In: Pagon R.A., Bird T.D., Dolan C.R., Stephens K., Adam M.P., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2005 Oct 10.
  30. Flanagan S.E., Patch A., Mackay D.J.G., et al. Mutations in KATP channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 2007;56:1930-37.
  31. Schwitzgebel V.M., Mamin A., Brun T., et al. Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. J Clin Endocrinol Metab 2003;88:4398-406.
  32. Sellick G.S., Barker K.T., Stolte-Dijkstra I., et al. Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet 2004;36:1301-5.
  33. Senee V., Chelala C., Duchatelet S., et al. Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat Gene. 2006;38:682-87.
  34. Rubio-Cabezas O., Minton J.A., Kantor I., et al. Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities. Diabetes 2010;59(9):2326-31.
  35. Pinney S.E., Oliver-Krasinski J., Ernst L., et al. DD Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human neurogenin-3 gene coding sequence. J Clin Endocrinol Metab 2011;96(7):1960-65.
  36. Mitchell J., Punthakee Z., Lo B., et al. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. Diabetologia 2004;47:2160-74.
  37. Edghill E.L., Flanagan S.E., Patch A.M., et al. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008;57:1034-42.
  38. Delepine M., Nicolino M., Barrett T., et al. EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nat Genet 2000;25:406-09.
  39. Hannibal M.C., Torgerson T. IPEX Syndrome GeneReviews, Bookshelf ID: NBK1118.
  40. Njolstad P.R., Sovik O., Cuesta-Munoz A., et al. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med 2001;344:1588-92.
  41. Gloyn A.L., Pearson E.R., Antcliff J.F., et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004;350:1838-49.
  42. Babenko A.P., Polak M., Cave H., Busiah K., Czernichow P. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 2006;355:456-66.
  43. Proks P., Shimomura K., Craig T.J., Girard C.A, Ashcroft F.M. Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome. Hum Mol Genet 2007; 16:2011-19.
  44. Polak M., Cave H. Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet J Rare Dis 2007;2:12.

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