Maturity-onset diabetes of the young: From a molecular basis perspective toward the clinical phenotype and proper management
Tài liệu tham khảo
American Diabetes Association, 2019, Classification and diagnosis of diabetes: Standards of Medical Care in Diabetes – 2019, Diabetes Care, 42, S13, 10.2337/dc19-S002
Urbanová, 2018, Hidden MODY – looking for a needle in a haystack, Front Endocrinol, 9, 355, 10.3389/fendo.2018.00355
Yeung, 2018, Not quite type 1 or type 2, what now? Review of monogenic, mitochondrial, and syndromic diabetes, Rev. Endocr. Metab. Disord., 19, 35, 10.1007/s11154-018-9446-3
Firdous, 2018, Genetic testing of maturity-onset diabetes of the young current status and future perspectives, Front Endocrinol, 9, 1, 10.3389/fendo.2018.00253
Heuvel-Borsboom, 2016, Maturity onset diabetes of the young: seek and you will find, Neth. J. Med., 74, 193
Fajans, 2011, MODY: history, genetics, pathophysiology, and clinical decision making, Diabetes Care, 34, 1878, 10.2337/dc11-0035
Kim, 2015, Maturity-onset diabetes of the young: what do clinicians need to know?, Diabetes Metab J, 39, 468, 10.4093/dmj.2015.39.6.468
Naylor, 2018
Stoffel, 1997, The maturity-onset diabetes of the young (MODY1) transcription factor HNF-4α regulates expression of genes required for glucose transport and metabolism, Proc. Natl. Acad. Sci. U.S.A., 94, 13209, 10.1073/pnas.94.24.13209
Yamagata, 1996, Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY 3), Nature, 384, 455, 10.1038/384455a0
Yamagata, 1996, Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY 1), Nature, 384, 458, 10.1038/384458a0
Amed, 2016, Maturity-onset diabetes of the young (MODY): making the right diagnosis to optimize treatment, Can J Diabetes, 40, 449, 10.1016/j.jcjd.2016.03.002
Wang, 2000, Hepatocyte nuclear factor 4α regulates the expression of pancreatic β-cell genes implicated in glucose metabolism and nutrient-induced insulin secretion, J. Biol. Chem., 275, 35953, 10.1074/jbc.M006612200
Gardner, 2012, Clinical features and treatment of maturity-onset diabetes of the young (MODY), Diabetes Metab Syndr Obes, 5, 101, 10.2147/DMSO.S23353
Fajans, 1993, Administration of sulfonylureas can increase glucose-induced insulin secretion for decades in patients with maturity-onset diabetes of the young, Diabetes Care, 16, 1254, 10.2337/diacare.16.9.1254
Anik, 2015, Maturity-onset diabetes of the young (MODY): an update, J Pediatr Endocr Met, 28, 251
Stride, 2005, Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers, Diabetes Care, 28, 1751, 10.2337/diacare.28.7.1751
Fajans, 2001, Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young, N. Engl. J. Med., 345, 971, 10.1056/NEJMra002168
Pontoglio, 2000, HNF1α controls renal glucose reabsorption in mouse and man, EMBO Rep., 4, 359, 10.1093/embo-reports/kvd071
Shih, 2000, Genotype/phenotype relationships in HNF-4α/MODY1: haploinsufficiency is associated with reduced apolipoprotein (AII), apolipoprotein (CIII), lipoprotein(a), and triglyceride levels, Diabetes, 49, 832, 10.2337/diabetes.49.5.832
Pearson, 2003, Genetic cause of hyperglycaemia and response to treatment in diabetes, Lancet, 362, 1275, 10.1016/S0140-6736(03)14571-0
Tuomi, 2006, Improved prandial glucose control with lower risk of hypoglycemia with nateglinide than with glibenclamide in patients with maturity-onset diabetes of the young type 3, Diabetes Care, 29, 189, 10.2337/diacare.29.02.06.dc05-1314
Osbak, 2009, Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia, Hum. Mutat., 30, 1512, 10.1002/humu.21110
Kavvoura, 2012, Maturity onset diabetes of the young: clinical characteristics, diagnosis and management, Pediatr Endocrinol Rev, 10, 234
Edghill, 2006, Mutations in hepatocyte nuclear factor-1b and their related phenotypes, J. Med. Genet., 43, 84, 10.1136/jmg.2005.032854
Horikawa, 1997, Mutation in hepatocyte nuclear factor-1b gene (TCF2) associated with MODY, Nat. Genet., 17, 384, 10.1038/ng1297-384
Haumaitre, 2006, Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1/MODY5 mutations, Hum. Mol. Genet., 15, 2363, 10.1093/hmg/ddl161
Pearson, 2004, Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1α and -1β mutations, Diabetes Care, 27, 1102, 10.2337/diacare.27.5.1102
Stoffers, 1997, Early-onset type-II diabetes mellitus (MODY4) linked to IPF1, Nat. Genet., 17, 138, 10.1038/ng1097-138
Clocquet, 2000, Impaired insulin secretion and increased insulin sensitivity in familial maturity-onset diabetes of the young 4 (insulin promoter factor 1 gene), Diabetes, 49, 1856, 10.2337/diabetes.49.11.1856
Gragnoli, 2005, IPF-1/MODY4 gene missense mutation in an Italian family with type 2 and gestational diabetes, Metabolism., 54, 983, 10.1016/j.metabol.2005.01.037
Odem, 2009, An infant with combination gene mutations for Monogenic Diabetes of Youth (MODY) 2 and 4, presenting with Diabetes Mellitus Requiring Insulin (DMRI) at 8 months of age, Pediatr Diabetes, 10, 550, 10.1111/j.1399-5448.2009.00515.x
Fajans, 2010, Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY due to the IPF1 mutation Pro63fsX60, Transl Res, 156, 7, 10.1016/j.trsl.2010.03.003
Malecki, 1999, Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus, Nat. Genet., 23, 323, 10.1038/15500
Horikawa, 2018, NEUROD1-deficient diabetes (MODY6): identification of the first cases in Japanese and the clinical features, Pediatr Diabetes, 19, 236, 10.1111/pedi.12553
Rubio-Cabezas, 2010, Homozygous mutations in NeuroD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities, Diabetes, 59, 2326, 10.2337/db10-0011
Neve, 2005, Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function, Proc. Natl. Acad. Sci. U.S.A., 102, 4807, 10.1073/pnas.0409177102
Fernandez-Zapico, 2009, MODY7 gene, KLF11, is a novel p300-dependent regulator of Pdx-1 (MODY4) transcription in pancreatic islet beta cells, J. Biol. Chem., 284, 36482, 10.1074/jbc.M109.028852
Johansson, 2011, Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease, J. Biol. Chem., 286, 593, 10.1074/jbc.M111.222679
Lombardo, 2018, Pancreatic adenocarcinoma, chronic pancreatitis, and MODY-8 diabetes: is bile salt-dependent lipase (or carboxyl ester lipase) at the crossroads of pancreatic pathologies?, Oncotarget, 9, 12513, 10.18632/oncotarget.23619
Raeder, 2006, Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction, Nat. Genet., 38, 54, 10.1038/ng1708
Kolar, 2016, Branched fatty acid esters of hydroxy fatty acids are preferred substrates of the MODY8 protein carboxyl ester lipase, Biochemistry, 55, 4636, 10.1021/acs.biochem.6b00565
Sosa-Pineda, 1997, The Pax4 gene is essential for differentiation of insulin-producing beta cells in the mammalian pancreas, Nature, 386, 399, 10.1038/386399a0
Plengvidhya, 2007, PAX4 mutations in Thais with maturity onset diabetes of the young, J. Clin. Endocrinol. Metab., 92, 2821, 10.1210/jc.2006-1927
Sujjitjoon, 2016, Aberrant mRNA splicing of paired box 4 (PAX4) IVS7-1G>A mutation causing maturity-onset diabetes of the young, type 9, Acta Diabetol., 53, 205, 10.1007/s00592-015-0760-x
Mauvais-Jarvis, 2004, PAX4 gene variations predispose to ketosis-prone diabetes, Hum. Mol. Genet., 13, 3151, 10.1093/hmg/ddh341
Meur, 2010, Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention, Diabetes, 59, 653, 10.2337/db09-1091
Edghill, 2008, 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, 1034, 10.2337/db07-1405
Boesgaard, 2010, Further evidence that mutations in INS can be a rare cause of maturity-onset diabetes of the young (MODY), BMC Med Genet, 11, 42, 10.1186/1471-2350-11-42
Borowiec, 2009, Mutations at the BLK locus linked to maturity onset diabetes of the young and β-cell dysfunction, Proc. Natl. Acad. Sci. U.S.A., 106, 14460, 10.1073/pnas.0906474106
Kim, 2004, Identification of a locus for maturity-onset diabetes of the young on chromosome 8p23, Diabetes, 53, 1375, 10.2337/diabetes.53.5.1375
Bowman, 2012, Heterozygous ABCC8 mutations are a cause of MODY, Diabetologia, 55, 123, 10.1007/s00125-011-2319-x
Tarasov, 2008, A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults, Diabetes, 57, 1595, 10.2337/db07-1547
Bonnefond, 2012, Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene, PLoS One, 7, e37423, 10.1371/journal.pone.0037423
Prudente, 2015, Loss-of-function mutations in APPL1 in familial diabetes mellitus, Am. J. Hum. Genet., 97, 177, 10.1016/j.ajhg.2015.05.011
Schenck, 2008, The endosomal protein Appl1 mediates Akt substrate specificity and cell survival in vertebrate development, Cell, 133, 486, 10.1016/j.cell.2008.02.044
Dusatkova, 2014, Lessons from whole-exome sequencing in MODYX families, Diabetes Res. Clin. Pract., 104, 72, 10.1016/j.diabres.2014.03.008
Frayling, 2003, A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity, Diabetes, 52, 872, 10.2337/diabetes.52.3.872
Misra, 2018, Genetics of monogenic diabetes: present clinical challenges, Curr Diab Rep, 18, 1, 10.1007/s11892-018-1111-4
Thanabalasingham, 2011, Diagnosis and management of maturity onset diabetes of the young (MODY), BMJ, 343, d6044, 10.1136/bmj.d6044
Szopa, 2015, Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young, Pol. Arch. Med. Wewn., 125, 845
Nair, 2013, Molecular diagnosis of maturity onset diabetes of the young in India, Indian J Endocrinol Metab, 17, 430, 10.4103/2230-8210.111636
Vaxillaire, 2008, Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes, Endocr. Rev., 29, 254, 10.1210/er.2007-0024
Shields, 2012, The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes, Diabetologia, 55, 1265, 10.1007/s00125-011-2418-8
Shields, 2017, Population-based assessment of a biomarker-based screening pathway to aid diagnosis of monogenic diabetes in young-onset patients, Diabetes Care, 40, 1017, 10.2337/dc17-0224
Besser, 2011, 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, Diabetes Care, 34, 286, 10.2337/dc10-1293
McDonald, 2011, High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes, Diabetes Care, 34, 1860, 10.2337/dc11-0323
Owen, 2010, Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations, Diabetes Care, 33, 1919, 10.2337/dc10-0288
McDonald, 2011, Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes, Diabet. Med., 28, 1028, 10.1111/j.1464-5491.2011.03287.x