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논문KCI 등재

MODY 증후군

MODY Syndrome

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초록

Maturity-onset diabetes of the young (MODY) is a heterogenous form of diabetes characterized by the early onset of diabetes, autosomal dominant inheritance, and impaired insulin secretion. MODY is mostly caused by mutations of the hepatocyte nuclear factor 1-α (HNF1-α) and glucokinase genes in Caucasians. However most Korean, Japanese, and Chinese patients with MODY do not express known MODY genes. The cause of MODY in Asians has not yet been elucidated clearly. This review focuses on studies on Asian patients with MODY.

Abstract

Maturity-onset diabetes of the young (MODY) is a heterogenous form of diabetes characterized by the early onset of diabetes, autosomal dominant inheritance, and impaired insulin secretion. MODY is mostly caused by mutations of the hepatocyte nuclear factor 1-α (HNF1-α) and glucokinase genes in Caucasians. However most Korean, Japanese, and Chinese patients with MODY do not express known MODY genes. The cause of MODY in Asians has not yet been elucidated clearly. This review focuses on studies on Asian patients with MODY.

참고문헌 (27)

  1. Froguel P, "Molecular genetics of maturity-onset diabetes of the young", Trends Endocrinol Metab, 10, pp.142~146 (1999)
  2. Velho G, "Maturity-onset diabetes of the young (MODY): genetic and clinical characteristics", Horm Res, 57(Suppl 1), pp.29~33 (2002)
  3. Fajans SS, "Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young", N Engl J Med, 345, pp.971~980 (2001)
  4. Ledermann HM, "Is maturity onset diabetes at young age (MODY) more common in Europe than previously assumed?", Lancet, 345, pp.648~ (1995)
  5. Velho G, "Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase in kindreds of maturity onset diabetes of the young", Lancet, 340, pp.444~448 (1992)
  6. Byrne MM, "Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations", J Clin Invest, 93, pp.1120~1130 (1994)
  7. Pueyo ME, "Arginine-induced insulin release in glucokinase- deficient subjects", Diabetes Care, 17, pp.1015~1021 (1994)
  8. Malecki MT, "Monogenic diabetes: implications for therapy of rare types of disease", Diabetes Obes Metab, 10, pp.607~616 (2008)
  9. Schrem H, "Liver-enriched transcription factors in liver function and development. Part I: the hepatocyte nuclear factor network and liver-specific gene expression", Pharmacol Rev, 54, pp.129~158 (2002)
  10. Habener JF, "A newly discovered role of transcription factors involved in pancreas development and the pathogenesis of diabetes mellitus", Proc Assoc Am Physicians, 110, pp.12~21 (1998)
  11. Bingham C, "Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations", Kidney Int, 61, pp.1243~1251 (2002)
  12. Montoli A, "Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement", Am J Kidney Dis, 40, pp.397~402 (2002)
  13. Shih DQ, "Genotype", phenotype relationships in HNF-4alpha, Diabetes, pp.2000, 49[DOI]
  14. Matschinsky FM, "Glucokinase, glucose homeostasis, and diabetes mellitus", Curr Diab Rep, 5, pp.171~176 (2005)
  15. Shepherd M, "Genetic testing in maturity onset diabetes of the young (MODY): a new challenge for the diabetic clinic", Pract Diab Int, 18, pp.16~21 (2001)
  16. Owen K, "Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization", Best Pract Res Clin Endocrinol Metab, 15, pp.309~323 (2001)
  17. Hani EH, "A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus", J Clin Invest, 101, pp.521~526 (1998)
  18. Horikawa Y, "Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY", Nat Genet, 17, pp.384~385 (1997)
  19. Lindner TH, "A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1β", Hum Mol Genet, 8, pp.2001~2008 (1999)
  20. Maestro MA, "Distinct roles of HNF1 β, HNF1 α, and HNF4 α in regulating pancres development, β-cell function and growth", Endocr Dev, 12, pp.33~45 (2007)
  21. Boj SF, "A transcription factor regulatory circuit in differentiated pancreatic cells", Proc Natl Acad Sci U S A, 98, pp.14481~14486 (2001)
  22. Vaxillaire M, "Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes", Endocr Rev, 29, pp.254~264 (2008)
  23. Hwang JS, "Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients", Diabetes Res Clin Pract, 74, pp.75~81 (2006)
  24. Xu JY, "Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients", Eur J Hum Genet, 13, pp.422~427 (2005)
  25. Tonooka N, "High frequency of mutations in the HNF-1 α gene (TCF1) in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance", Diabetologia, 45, pp.1709~1712 (2002)
  26. Iwasaki N, "Diabetes mellitus", Rinsho Byori, 49, pp.161~164 (2001)
  27. Plengvidhya N, "Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus", Clin Endocrinol, 70, pp.847~853 (2009)

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