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Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice.
Open accessAbstract
Mutations in the gene for the transcription factor hepatocyte nuclear factor (HNF) 1alpha cause maturity-onset diabetes of the young (MODY) 3, a form of diabetes that results from defects in insulin secretion. Since the nature of these defects has not been defined, we compared insulin secretory function in heterozygous [HNF-1alpha (+/-)] or homozygous [HNF-1alpha (-/-)] mice with null mutations in the HNF-1alpha gene with their wild-type littermates [HNF-1alpha (+/+)]. Blood glucose concentrations were similar in HNF-1alpha (+/+) and (+/-) mice (7.8+/-0.2 and 7.9+/-0.3 mM), but were significantly higher in the HNF-1alpha (-/-) mice (13.1+/-0.7 mM, P < 0.001). Insulin secretory responses to glucose and arginine in the perfused pancreas and perifused islets from HNF-1alpha (-/-) mice were < 15% of the values in the other two groups and were associated with similar reductions in intracellular Ca2+ responses. These defects were not due to a decrease in glucokinase or insulin gene transcription. beta cell mass adjusted for body weight was not reduced in the (-/-) animals, although pancreatic insulin content adjusted for pancreas weight was slightly lower (0.06+/-0.01 vs. 0.10+/-0.01 microg/mg, P < 0.01) than in the (+/+) animals. In summary, a null mutation in the HNF-1alpha gene in homozygous mice leads to diabetes due to alterations in the pathways that regulate beta cell responses to secretagogues including glucose and arginine. These results provide further evidence in support of a key role for HNF-1alpha in the maintenance of normal beta cell function.
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“it is the loss of HNF1α resulting in an almost abolished insulin secretion, likely due to a decreased response to intracellular calcium.”
From Pancreatic regulation of glucose homeostasis. (2016) · cites this paper as [176]
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“These findings support the importance of HNF1α in maintaining β-cell function176 and its involvement in maturity-onset diabetes of the young (MODY3).177”
From Pancreatic regulation of glucose homeostasis. (2016) · cites this paper as [176]
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“Evidence is growing that functional -cell mass is decreased in animal models of MODY and in type 2 diabetes, with an increased apoptosis rate largely contributing to this decrease (12,13,33).”
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“However, HNF1a mice do not develop diabetes (Pontoglio et al., 1998) and HNF1a / mice show growth retardation, impaired insulin release, and aerobic glucose metabolism, but unlike MODY3 patients suffer from other renal and kidney complications due to the pleiotropic effect of complete loss of HNF1a (Lee et al.”
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“However, it was later found that this protein also has a role in glucose homeostasis via regulation of insulin secretion [76,77] and that mutations in Hnf1a were the cause of MODY3 [78-80].”
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“It is noteworthy that insulin mRNA levels in the beta-cells of HNF-1adeficient mice were normal ( 34 ), suggesting that the secretory defects in response to glucose and arginine are not related to a direct effect of HNF-1a on the insulin gene.”
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“terestingly, Northern blot analysis revealed increased rather than decreased glucokinase mRNA in islets isolated from the same transgenic animals (15).”
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“Hnf1a knockout mouse models display both Laron-type dwarfism and non-insulin-dependent diabetes characterized also with a marked liver enlargement [13,14] and alterations in the maintenance of normal endocrine pancreas [15].”
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“Hnf1a null mice have unregulated insulin release, but the mechanism for this remains yet to be determined [74].”
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“This crosstalk may be clinically significant because HNF1α mutations in humans cause elevated glucosuria [36, 46] and monogenic diabetes [46, 47].”
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“Pancreatic islets from Hnf-1 / mice also exhibit significantly reduced insulin secretory responses to tolbutamide compared with Hnf-1 / animals in vitro (5,19).”
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“mice are characterized by defective insulin secretion (37).”
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“In contrast, mice with null mutation of HNF-1α develop a renal Fanconi-like syndrome accompanied by hepatomegaly, defective insulin secretion and hyperglycaemia [27, 28].”
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“Similar toMODY5, the phenotypes ofMODY3/HNF1A and MODY1/HNF4A mutations are not fully mirrored in mice (Stoffel and Duncan 1997; Pontoglio et al. 1998; Garcia-Gonzalez et al. 2016).”
BackgroundIncreased Insulin Sensitivity in Mice Lacking Collectrin, a Downstream Target of HNF-1α
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Bayle, J. H., Randazzo, F. M., Johnen, G., Kaufman, S., Nagy, A., Rossant, J., & Crabtree, G. R. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m201983200 · Cited by 28
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Pongratz, R. L., Kibbey, R. G., Kirkpatrick, C. L., Zhao, X., Pontoglio, M., Yaniv, M., Wollheim, C. B., Shulman, G. I., & Cline, G. W. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m807723200 · Cited by 28
Self-citationSjöholm, Å., Lehtihet, M., Efanov, A. M., Zaitsev, S. V., Berggren, P., & Honkanen, R. E. (2002) · Endocrinology · doi:10.1210/en.2002-220672 · Cited by 27
Demirci, D. K., Darendelıler, F., Poyrazoğlu, Ş., Kardelen, A. D., Gül, N., Tütüncü, Y., Gülfidan, G., Arğa, K. Y., Cacına, C., Öztürk, O., et al. (2021) · OMICS A Journal of Integrative Biology · doi:10.1089/omi.2021.0081 · Cited by 26
Metabolomics Identifies Novel Hnf1α-Dependent Physiological Pathways in Vivo
Bonzo, J. A., Patterson, A. D., Krausz, K. W., & Gonzalez, F. J. (2010) · Molecular Endocrinology · doi:10.1210/me.2010-0130 · Cited by 26
Rose, R. B., Pullen, K. E., Bayle, J. H., Crabtree, G. R., & Alber, T. (2004) · Biochemistry · doi:10.1021/bi049620t · Cited by 26
Future Roadmaps for Precision Medicine Applied to Diabetes: Rising to the Challenge of Heterogeneity
Bowman, P., Flanagan, S. E., & Hattersley, A. T. (2018) · Journal of Diabetes Research · doi:10.1155/2018/3061620 · Cited by 26
“They have had some utility in providing support for hypotheses relating to mechanism and expression patterns for specific genes, particularly in MODY caused by mutations in the transcription factors hepatocyte nuclear factor 1 alpha (HNF-1A) [42, 43] and hepatocyte nuclear factor 1 beta (HNF-1B) [44] and in neonatal d…”
BackgroundAbles, E. T., Artner, I., Crawford, L. A., Poffenberger, G., Thorens, B., Stein, R. W., Powers, A. C., & GANNON, M. A. (2006) · Diabetes · doi:10.2337/db06-0090 · Cited by 26
“For example, mice lacking the POU-homeodomain factor Hnf1 have deficient secretagogue-stimulated insulin secretion (3) and abnormal islet gene expression (4).”
BackgroundTissue-specific transcription factors in progression of epithelial tumors
Lazarevich, N. L., & Fleishman, D. I. (2008) · Biochemistry (Moscow) · doi:10.1134/s0006297908050106 · Cited by 26
Kirkpatrick, C. L., Wiederkehr, A., Baquié, M., Akhmedov, D., Wang, H., Gauthier, B. R., Akerman, İ., Ishihara, H., Ferrer, J. P., & Wollheim, C. B. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.247866 · Cited by 25
Clinical and Genetic Features of Patients With Type 2 Diabetes and Renal Glycosuria
Gong, S., Guo, J., Han, X., Li, M., Zhou, L., Cai, X., Zhu, Y. M., Luo, Y., Zhang, S., Zhou, X., et al. (2017) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-2332 · Cited by 25
Hepatocyte Nuclear Factor 1α Controls the Expression of Terminal Complement Genes
Pontoglio, M., Pausa, M., Doyen, A., Viollet, B., Yaniv, M., & Tedesco, F. (2001) · The Journal of Experimental Medicine · doi:10.1084/jem.194.11.1683 · Cited by 25
“HNF1 deficient mice manifest dysfunctions affecting liver, kidney, and pancreas and develop hyperphenylalaninemia (13, 14), dysfunction in bile acid and cholesterol metabolism (12), insulin secretion defect (15, 16), and renal defective reabsorption of glucose, phosphate, and amino acids (17).”
Self-citationBrial, F., Lussier, C. R., Belleville, K., Sarret, P., & Boudreau, F. (2015) · Diabetes · doi:10.2337/db15-0124 · Cited by 24
“Although these mice still produce insulin, their pancreatic b-cells are defective in glucose-sensing insulin secretion (7,8).”
BackgroundPromoter elements in endocrine pancreas development and hormone regulation
Brink, C. (2003) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-003-2247-0 · Cited by 25
Boj, S. F., Servitja, J., Martin, D., Rios, M., Talianidis, I., Guigó, R., & Ferrer, J. P. (2009) · Diabetes · doi:10.2337/db08-0812 · Cited by 29
Bramblett, D. E., Huang, H., & Tsai, M. (1999) · Advances in pharmacology · doi:10.1016/s1054-3589(08)60114-3 · Cited by 24
Şentürk, M., Ekinci, D., Alici, H. A., & Beydemir, Ş. (2011) · Pesticide Biochemistry and Physiology · doi:10.1016/j.pestbp.2011.09.007 · Cited by 23
Hegele, R. A., Cao, H., Harris, S. B., Hanley, A. J., Zinman, B., & Connelly, P. W. (2000) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.20.1.217 · Cited by 23
Luco, R. F., Maestro, M. A., del Pozo, N., Philbrick, W. M., de la Ossa, P. P., & Ferrer, J. P. (2006) · Diabetes · doi:10.2337/db05-1534 · Cited by 23
“Such models exhibit a marked reduction of -cell proliferation, apoptosis, and an alteration of the islet structure, giving rise to a severe phenotype (44–47) not observed in knockout mice (3,6,19).”
BackgroundIntracellular glycosylation and development
O'Donnell, N. (2002) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/s0304-4165(02)00401-4 · Cited by 23
HNF1α controls glucagon secretion in pancreatic α-cells through modulation of SGLT1
Sato, Y., Rahman, M. M., Haneda, M., Tsuyama, T., Mizumoto, T., Yoshizawa, T., Kitamura, T., Gonzalez, F. J., Yamamura, K., & Yamagata, K. (2020) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2020.165898 · Cited by 21
Collectrin, a homologue of ACE2, its transcriptional control and functional perspectives
Zhang, Y., & Wada, J. (2007) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2007.08.136 · Cited by 21
When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes
Althari, S., & Gloyn, A. L. (2015) · The Review of Diabetic Studies · doi:10.1900/rds.2015.12.330 · Cited by 23
“For example, it would be futile to assess the function of naturally occurring HNF1A-MODY variants in a mouse model, because heterozygous HNF1A mutations have no effect on glycemic status in mice (in contrast to humans) as their insulin-secretory function and glucose tolerance are normal [82].”
BackgroundThe insulin receptor and metabolic signaling
Gustafson, T. A., Moodie, S. A., & Lavan, B. E. (1999) · Springer eBooks · doi:10.1007/3-540-65362-7_5 · Cited by 21
O’Hare, E. A., Yerges‐Armstrong, L. M., Perry, J. A., Shuldiner, A. R., & Zaghloul, N. A. (2016) · Molecular Endocrinology · doi:10.1210/me.2015-1243 · Cited by 21
Fujimoto, S., Tsuura, Y., Ishida, H., Tsuji, K., Mukai, E., Kajikawa, M., Hamamoto, Y., Takeda, T., Yamada, Y., & Seino, Y. (2000) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.2000.279.4.e927 · Cited by 20
“In their experiments using islets without treatment of glutathione, the augmentation of insulin release in response to elevated glucose was poor compared with that observed in other examinations (8, 36, 41), possibly a result of islets that were oxidatively stressed or injured during the isolation procedure.”
ResultDoria, A., & Plengvidhya, N. (2000) · Current Opinion in Endocrinology & Diabetes · doi:10.1097/00060793-200008000-00005 · Cited by 20
Burgos, J. I., Vallier, L., & Rodríguez‐Seguí, S. A. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.692596 · Cited by 17
Kong, B., Wu, W., Valkovska, N., Jäger, C., Hong, X., Nitsche, U., Friess, H., Esposito, I., Erkan, M., Kleeff, J. H., et al. (2015) · Scientific Reports · doi:10.1038/srep08109 · Cited by 19
Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes
Marucci, A., Rutigliano, I., Fini, G., Pezzilli, S., Menzaghi, C., Paola, R. D., & Trischitta, V. (2022) · Genes · doi:10.3390/genes13010117 · Cited by 22
Morita, K., Saruwatari, J., Tanaka, T., Oniki, K., Kajiwara, A., Otake, K., Ogata, Y., & Nakagawa, K. (2014) · Diabetes & Metabolism · doi:10.1016/j.diabet.2014.04.009 · Cited by 19
“Hepatocyte nuclear factor 1- (HNF1A) is a key transcription factor essential for pancreatic function, including the development and function of cells [1].”
BackgroundTranscription factor 1 and β‐cell function in glucose‐tolerant subjects
Chiu, K. C., Chuang, L., Chu, A. Y., & Wang, M. (2003) · Diabetic Medicine · doi:10.1046/j.1464-5491.2003.00905.x · Cited by 19
A suppressor locus for MODY3-diabetes
García-González, M. Á., Carette, C., Bagattin, A., Chiral, M., Makinistoglu, M. P., Garbay, S., Prevost, G., Madaras, C., Hérault, Y., Leibovici, M., et al. (2016) · Scientific Reports · doi:10.1038/srep33087 · Cited by 18
“We have previously shown that Hnf1a-deficiency leads to smaller islet size in mutant compared to wild-type mice 6 .”
Self-citationUpdate on Monogenic Diabetes in Korea
Yang, Y., Kwak, S. H., & Park, K. S. (2020) · Diabetes & Metabolism Journal · doi:10.4093/dmj.2020.0214 · Cited by 19
“HNF1A knockout mice develop diabetes because of impaired β-cell response to glucose [37], and also have an abnormal architecture of pancreatic islet [38].”
BackgroundMillar, K., & Dean, H. (2012) · Journal of Nutrition and Metabolism · doi:10.1155/2012/127452 · Cited by 20
“Knockout mice lacking any functional copy of HNF-1α have severe dysfunction in insulin production, the proposed diabetogenic mechanism of the S allele of HNF-1α [15].”
BackgroundInfluential
Metadata
- Authors
- Pontoglio, M., Sreenan, S., Roe, M., Pugh, W., Ostrega, D., Doyen, A., Pick, A. J., Baldwin, A., Velho, G., Froguel, P., Levisetti, M., Bonner-Weir, S., Bell, G. I., Yaniv, M., & Polonsky, K. S.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Institut Pasteur de Lille (FR)
- Inserm (FR)
- Howard Hughes Medical Institute (US)
- Venue
- Journal of Clinical Investigation
- Published
- 1998-05-15
- Volume
- 101
- Issue
- 10
- Pages
- 2215-2222
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC508809
- OpenAlex
- W2095311108
- Cited by
- 321
- References
- 23
- Citations by year
- 2026: 4 · 2025: 8 · 2024: 4 · 2023: 3 · 2022: 14 · 2021: 11 · 2020: 7 · 2019: 7 · 2018: 5 · 2017: 8 · 2016: 7 · 2015: 16 · 2014: 7 · 2013: 4 · 2012: 11
- FWCI
- 21.87
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5p01dk044840-10)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK 44840, DK-31842, DK 20595)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pancreatic function and diabetes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes Treatment and Management
- Keywords
- HNF1A, maturity-onset diabetes of the young, MODY3, insulin secretion, beta-cell function, glucose-stimulated insulin secretion, arginine-stimulated insulin secretion, intracellular calcium, hyperglycemia, insulin content, glucokinase, insulin gene transcription
- MeSH terms
- Insulin Secretion, Animals, Arginine, Blood Glucose, Body Weight, Calcium, Diabetes Mellitus, Type 2, DNA-Binding Proteins, Gene Expression Regulation, Glucose, Heterozygote, Homozygote, Immunohistochemistry, Insulin, Islets of Langerhans, Nuclear Proteins, Organ Size, Pancreas, RNA, Messenger, Transcription Factors, Mice, Knockout, Mice, Hepatocyte Nuclear Factor 1, Hepatocyte Nuclear Factor 1-alpha, Hepatocyte Nuclear Factor 1-beta
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