Maturity-onset diabetes of the young: update and perspectives on diagnosis and treatment
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Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of monogenic disorders characterized by ß-cell dysfunction. MODY accounts for between 2% and 5% of all diabetes cases, and distinguishing it from type 1 or type 2 diabetes is a diagnostic challenge. Recently, MODY-causing mutations have been identified in 14 different genes. Sanger DNA sequencing is the gold standard for identifying the mutations in MODY-related genes, and may facilitate the diagnosis. Despite the lower frequency among diabetes mellitus cases, a correct genetic diagnosis of MODY is important for optimizing treatment strategies. There is a discrepancy in the disease-causing locus between the Asian and Caucasian patients with MODY. Furthermore, the prevalence of the disease in Asian populations remains to be studied. In this review, the current understanding of MODY is summarized and the Asian studies of MODY are discussed in detail.
Abstract
Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of monogenic disorders characterized by ß-cell dysfunction. MODY accounts for between 2% and 5% of all diabetes cases, and distinguishing it from type 1 or type 2 diabetes is a diagnostic challenge. Recently, MODY-causing mutations have been identified in 14 different genes. Sanger DNA sequencing is the gold standard for identifying the mutations in MODY-related genes, and may facilitate the diagnosis. Despite the lower frequency among diabetes mellitus cases, a correct genetic diagnosis of MODY is important for optimizing treatment strategies. There is a discrepancy in the disease-causing locus between the Asian and Caucasian patients with MODY. Furthermore, the prevalence of the disease in Asian populations remains to be studied. In this review, the current understanding of MODY is summarized and the Asian studies of MODY are discussed in detail.
참고문헌 (73)
- Yang Y, "Monogenic diabetes : what it teaches us on the common forms of type 1 and type 2 diabetes", Endocr Rev, 37, pp.190~222 (2016)
- Steck AK, "Review on monogenic diabetes", Curr Opin Endocrinol Diabetes Obes, 18, pp.252~258 (2011)
- Tattersall RB, "Mild familial diabetes with dominant inheritance", Q J Med, 43, pp.339~357 (1974)
- Ellard S, "Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young", Diabetologia, 51, pp.546~553 (2008)
- Froguel P, "Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus", Nature, 356, pp.162~164 (1992)
- Yamagata K, "Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young(MODY1)", Nature, 384, pp.458~460 (1996)
- Horikawa Y, "Mutation in hepatocyte nuclear factor-1 beta gene(TCF2)associated with MODY", Nat Genet, 17, pp.384~385 (1997)
- 김성훈, "Maturity-Onset Diabetes of the Young: What Do Clinicians Need to Know?", Diabetes and Metabolism Journal, 39(6), pp.468~477 (2015), 대한당뇨병학회[DOI]
- Prudente S, "Loss-of-function mutations in appl1 in familial diabetes mellitus", Am J Hum Genet, 97, pp.177~185 (2015)
- Urakami T, "Maturity-onset diabetes of the young(MODY) : current perspectives on diagnosis and treatment", Diabetes Metab Syndr Obes, 12, pp.1047~1056 (2019)
- Henzen C, "Monogenic diabetes mellitus due to defects in insulin secretion", Swiss Med Wkly, 142, pp.w13690~ (2012)
- Shepherd M, "Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the U.K. pediatric diabetes population with monogenic diabetes", Diabetes Care, 39, pp.1879~1888 (2016)
- Fajans SS, "Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young", N Engl J Med, 345, pp.971~980 (2001)
- Shields BM, "Maturity-onset diabetes of the young (MODY): how many cases are we missing?", Diabetologia, 53, pp.2504~2508 (2010)
- Osbak KK, "Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia", Hum Mutat, 30, pp.1512~1526 (2009)
- Steele AM, "Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation : observational case control studies", PLoS One, 8, pp.e65326~ (2013)
- Kavvoura FK, "Maturity onset diabetes of the young: clinical characteristics, diagnosis and management", Pediatr Endocrinol Rev, 10, pp.234~242 (2013)
- Estalella I, "Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain", Clin Endocrinol(Oxf), 67, pp.538~546 (2007)
- Codner E, "Mild fasting hyperglycemia in children : high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus", Pediatr Diabetes, 10, pp.382~388 (2009)
- 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)
- McDonald TJ, "Maturity onset diabetes of the young : identification and diagnosis", Ann Clin Biochem, 50, pp.403~415 (2013)
- Pontoglio M, "Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice", J Clin Invest, 101, pp.2215~2222 (1998)
- Boileau P, "Decreased glibenclamide uptake in hepatocytes of hepatocyte nuclear factor-1alpha-deficient mice: a mechanism for hypersensitivity to sulfonylurea therapy in patients with maturity-onset diabetes of the young, type 3 (MODY3)", Diabetes, 51(Suppl 3), pp.S343~S348 (2002)
- Hattersley AT, "ISPAD Clinical Practice Consensus Guidelines 2018 : the diagnosis and management of monogenic diabetes in children and adolescents", Pediatr Diabetes, 19(Suppl 27), pp.47~63 (2018)
- Colclough K, "Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia", Hum Mutat, 34, pp.669~685 (2013)
- Ellard S, "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, 27, pp.854~869 (2006)
- Yamagata K, "Overexpression of dominant-negative mutant hepatocyte nuclear fctor-1 alpha in pancreatic beta-cells causes abnormal islet architecture with decreased expression of E-cadherin, reduced beta-cell proliferation, and diabetes", Diabetes, 51, pp.114~123 (2002)
- Shepherd M, "Predictive genetic testing in maturity-onset diabetes of the young(MODY)", Diabet Med, 18, pp.417~421 (2001)
- Pontoglio M, "HNF1alpha controls renal glucose reabsorption in mouse and man", EMBO Rep, 1, pp.359~365 (2000)
- Steele AM, "Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene", Diabet Med, 27, pp.157~161 (2010)
- Pearson ER, "Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection", Diabetologia, 48, pp.878~885 (2005)
- Pearson ER, "Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations : evidence for pharmacogenetics in diabetes", Diabet Med, 17, pp.543~545 (2000)
- Shepherd M, "No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas", Diabetes Care, 26, pp.3191~3192 (2003)
- Shepherd M, "A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients", Diabet Med, 26, pp.437~441 (2009)
- Stoffel M, "The maturity-onset diabetes of the young(MODY1)transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism", Proc Natl Acad Sci U S A, 94, pp.13209~13214 (1997)
- Frayling TM, "beta-cell genes and diabetes : molecular and clinical characterization of mutations in transcription factors", Diabetes, 50(Suppl 1), pp.S94~S100 (2001)
- Lehto M, "Mutation in the HNF-4alpha gene affects insulin secretion and triglyceride metabolism", Diabetes, 48, pp.423~425 (1999)
- Barbacci E, "Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification", Development, 126, pp.4795~4805 (1999)
- Bingham C, "Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta", Kidney Int, 57, pp.898~907 (2000)
- Edghill EL, "Hepatocyte nuclear factor-1beta gene deletions : a common cause of renal disease", Nephrol Dial Transplant, 23, pp.627~635 (2008)
- Bingham C, "Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease", Am J Hum Genet, 68, pp.219~224 (2001)
- Bellanne-Chantelot C, "Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations", Ann Intern Med, 140, pp.510~517 (2004)
- Edghill EL, "Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation : support for a critical role of HNF-1beta in human pancreatic development", Diabet Med, 23, pp.1301~1306 (2006)
- Cerf ME, "Transcription factors regulating beta-cell function", Eur J Endocrinol, 155, pp.671~679 (2006)
- Gragnoli C, "IPF-1", MODY4 gene missense mutation in an Italian family with type 2 and gestational diabetes, 2005, pp.54, 983~988
- Stoffers DA, "Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence", Nat Genet, 15, pp.106~110 (1997)
- Nicolino M, "A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency", Diabetes, 59, pp.733~740 (2010)
- Rubio-Cabezas O, "Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities", Diabetes, 59, pp.2326~2331 (2010)
- Neve B, "Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function", Proc Natl Acad Sci U S A, 102, pp.4807~4812 (2005)
- Raeder H, "Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction", Nat Genet, 38, pp.54~62 (2006)
- Torsvik J, "Mutations in the VNTR of the carboxyl-ester lipase gene(CEL)are a rare cause of monogenic diabetes", Hum Genet, 127, pp.55~64 (2010)
- Jonsson J, "Insulin-promot er-factor 1 is required for pancreas development in mice", Nature, 371, pp.606~609 (1994)
- Plengvidhya N, "PAX4 mutations in Thais with maturity onset diabetes of the young", J Clin Endocrinol Metab, 92, pp.2821~2826 (2007)
- Edghill EL, "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, 57, pp.1034~1042 (2008)
- Borowiec M, "Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction", Proc Natl Acad Sci U S A, 106, pp.14460~14465 (2009)
- Kapoor RR, "Hyperinsulinaemic hypoglycaemia", Arch Dis Child, 94, pp.450~457 (2009)
- Bowman P, "Heterozygous ABCC8 mutations are a cause of MODY", Diabetologia, 55, pp.123~127 (2012)
- Liu L, "Mutations in KCNJ11 are associated with the development of autosomal dominant, early-onset type 2 diabetes", Diabetologia, 56, pp.2609~2618 (2013)
- Thanabalasingham G, "Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young", Diabetes Care, 35, pp.1206~1212 (2012)
- Vaxillaire M, "Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes", Endocr Rev, 29, pp.254~264 (2008)
- Shields BM, "The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes", Diabetologia, 55, pp.1265~1272 (2012)
- Besser RE, "Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}", hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes, 2011, pp.34, 286~291
- Reiner AP, "Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein", Am J Hum Genet, 82, pp.1193~1201 (2008)
- Park SS, "Identifying pathogenic variants of monogenic diabetes using targeted panel sequencing in an east Asian population", J Clin Endocrinol Metab (2019)
- Hattersley AT, "Precision diabetes : learning from monogenic diabetes", Diabetologia, 60, pp.769~777 (2017)
- Bansal V, "Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals", BMC Med, 15, pp.213~ (2017)
- 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)
- Iwasaki N, "Mutations in the hepatocyte nuclear factor-1alpha", MODY3 gene in Japanese subjects with early-and late-onset NIDDM, 1997, pp.46, 1504~1508
- Nishigori H, "Mutations in the hepatocyte nuclear factor-1 alpha gene(MODY3)are not a major cause of early-onset non-insulin-dependent(type 2)diabetes mellitus in Japanese", J Hum Genet, 43, pp.107~110 (1998)
- Tonooka N, "High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance", Diabetologia, 45, pp.1709~1712 (2002)
- Tanaka D, "Exome sequencing identifies a new candidate mutation for susceptibility to diabetes in a family with highly aggregated type 2 diabetes", Mol Genet Metab, 109, pp.112~117 (2013)
- Shim YJ, "Identification of candidate gene variants in Korean MODY families by whole-exome sequencing", Horm Res Paediatr, 83, pp.242~251 (2015)
- Johansson S, "Exome sequencing and genetic testing for MODY", PLoS One, 7, pp.e38050~ (2012)
