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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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Lee, Y., Magnuson, M. A., Muppala, V., & Chen, S. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.3.923-932.2003 · Cited by 15
“As shown in Fig. 3B and C, the expression of genes, such as Glut2, HNF-4, and NeuroD1, that are down regulated in the HNF- 1-null mice and have been attributed to their pancreatic defect ( 21 , 25) remained undetectable or down regulated in pancreas of hepatic-Hnf-1-revived mice.”
BackgroundIntima-media thickness and endothelial dysfunction in GCK and HNF1A-MODY patients
Szopa, M., Osmenda, G., Wilk, G., Matejko, B., SKUPIEN, J. K., Zapała, B., Mlynarski, W. M., Guzik, T. J., & Malecki, M. T. (2014) · European Journal of Endocrinology · doi:10.1530/eje-14-0713 · Cited by 14
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“Studies of HNF1alpha knockout mice have demonstrated defective beta cell function with hyperglycemia ( 3 ).”
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Barbetti, F., Rapini, N., Schiaffini, R., Bizzarri, C., & Cianfarani, S. (2022) · Expert Review of Endocrinology & Metabolism · doi:10.1080/17446651.2022.2035216 · Cited by 15
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SGLT2 : A Potential Target for the Pharmacogenetics of Type 2 Diabetes?
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“Disruption of the murine HNF1a gene results in a complex pattern of traits caused by liver, renal, and pancreatic dysfunctions (33, 36 ).”
BackgroundSelf-citationInsulingene expression and biosynthesis
Poitout, V., Stein, R. W., & Rhodes, C. J. (2015) · Wiley eBooks · doi:10.1002/9781118387658.ch6 · Cited by 13
Distinct Regulation of Hepatic Nuclear Factor 1α by NKX6.1 in Pancreatic Beta Cells
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Beta-Cell-Targeted Expression of a Dominant-Negative Mutant of Hepatocyte Nuclear Factor-1α in Mice
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“To understand the molecular consequences for -cell function of mutations in the HNF-1 gene, mice with deletion of the gene (HNF-1 / ) have been generated (14,15).”
BackgroundHNF1α maintains pancreatic α and β cell functions in primary human islets
Qian, M. F., Bevacqua, R. J., Coykendall, V. M. N., Liu, X., Zhao, W., Chang, C., Gu, X., Dai, X.-Q., MacDonald, P. E., & Kim, S. K. (2023) · JCI Insight · doi:10.1172/jci.insight.170884 · Cited by 11
“In humans, HNF1A haploinsufficiency underlies HNF1A-MODY, but mice heterozygous for an Hnf1a null allele are not diabetic (15).”
Watanabe, M., Umeyama, K., Kawano, H., IZUNO, N., Nagashima, H., & Miki, K. (2007) · Journal of Reproduction and Development · doi:10.1262/jrd.18068 · Cited by 11
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“This is in line with the previously reported Hnf1a knock-out mouse models, which also required a homozygous mutation status to display a HNF1A-MODY-like phenotype (Lee et al., 1998; Pontoglio, 1996; Pontoglio, 1998; Parrizas, 2001).”
ResultJabar, F., Colatruglio, S., Sellers, E. A. C., Kroeker, K., & Wicklow, B. A. (2018) · Journal of Developmental Origins of Health and Disease · doi:10.1017/s204017441800048x · Cited by 10
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Phenotypic Characterization of LEA Rat: A New Rat Model of Nonobese Type 2 Diabetes
Okamura, T., Pei, X. Y., Miyoshi, I., Shimizu, Y., Yanobu‐Takanashi, R., Mototani, Y., 金井, 孝., Satoh, J., Kimura, N., & Kasai, N. (2013) · Journal of Diabetes Research · doi:10.1155/2013/986462 · Cited by 10
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“Beta cell transgenic mice carrying a deletion of the Hnf1a gene have defective glucose-stimulated insulin secretion without insulin resistance of target tissues [8], similar to individuals with HNF1A-MODY [9].”
ResultChan, J. W., Neo, C. W. Y., Ghosh, S., Choi, H., Lim, S. C., Tai, E. S., & Teo, A. K. K. (2023) · Cell Death and Disease · doi:10.1038/s41419-023-05827-8 · Cited by 9
“However, unlike MODY3 patients who have a heterozygous HNF1A gene mutation, Hnf1a heterozygous (Hnf1a) knockout mice do not exhibit renal defects [20].”
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“Heterozygous knockout mice that lack in one copy of the HNF1A have a normal phenotype, whereas MODY patients have a heterozygous mutation and fully express the diabetes phenotype (Pontoglio et al. 1998; Pontoglio 2000).”
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“Moreover, the human HNF1a variant HNF1aT260M also showed impaired islet GSIS, which disturbed the transcriptional regulatory network of insulin secretion [9].”
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Poitout, V., Stein, R. W., & Rhodes, C. J. (2003) · Wiley eBooks · doi:10.1002/0470862092.d0203 · Cited by 8
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Self-citationIdentification of Novel Regulatory Regions Induced by Intrauterine Growth Restriction in Rat Islets
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“It regulates expression of genes involved in insulin synthesis, glucose-stimulated insulin secretion, and β-cell differentiation (44-46).”
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Harries, L. W. (2006) · Expert Review of Endocrinology & Metabolism · doi:10.1586/17446651.1.6.715 · Cited by 6
Le MODY : modèle d’étude d’interactions génotype/phénotype dans le diabète de type 2
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“Our results were unexpected given those of earlier clinical studies [5] and pancreas perfusion and perifusion studies of islets from diabetic HNF1a (±/±) mice [19].”
BackgroundResultInfluentialMolecular and physiological basis for maturity onset diabetes of youth
Groop, L., & Lehto, M. J. (1999) · Current Opinion in Endocrinology & Diabetes · doi:10.1097/00060793-199904000-00012 · Cited by 6
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“Hnf-1 −/− mice form normal-looking islets with only minimal, if any, reductions in cell mass (Lee et al. 1998; Pontoglio et al. 1998).”
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Maturity Onset Diabetes of the Young (Mody)
Froguel, P., & Velho, G. (2001) · Endocrine updates · doi:10.1007/978-1-4615-1597-5_5 · Cited by 5
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Bridging pancreatic and hepatic development: overlapping genes and their role in diabetes
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“HNF1α − / − mice display growth retardation and impaired insulin secretion, resulting in abnormal glucose levels and diabetes development [59, 61, 62].”
MODY type diabetes: overview and recent findings
Khelifa, S. B., Barboura, I., Dandana, A., Ferchichi, S., & Miled, A. (2011) · Annales de biologie clinique · doi:10.1684/abc.2011.0605 · Cited by 4
Rapamycin protects against dominant negative-HNF1A-induced apoptosis in INS-1 cells
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“scription and decreased phosphoinositide-3 kinase (PI-3K)/ Akt activity, thereby attenuating cell growth and proliferation and sensitizing beta cells to apoptosis [5, 7, 9, 10].”
BackgroundThe nuclear receptor coactivator AIB3 is a modulator of HOMA β‐cell function in nondiabetic children
Burghardt, H. E., López‐Bermejo, A., Baumgartner, B. G., Ibáñez, L., Vendrell, J. J., Ricart, W., Palacı́n, M., Fernández‐Real, J. M., & Zorzano, A. (2008) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2008.03232.x · Cited by 4
Repression of HNF1α-mediated transcription by amino-terminal enhancer of split (AES)
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“Defective insulin secretion has also been observed in HNF-1adeficient mice, supporting the concept that insulin deficiency is responsible for the development of diabetes in patients with HNF-1a mutations ( 8 ).”
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Lazo-de-la-Vega-Monroy, M.-L., & Fernández‐Mejía, C. (2009) · PubMed · Cited by 4
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An Historical and Phylogenetic Perspective of Islet-Cell Development
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Ndonwi, E. N., Matshazi, D. M., Davison, G. M., Erasmus, R. T., Kengne, A. P., & Matsha, T. E. (2025) · Biomedical Reports · doi:10.3892/br.2025.2022 · Cited by 3
“The A‑allele of rs11605924 SNP is moderately associated with impaired fasting glucose and T2D in a Chinese population (22). rs1169288 is a SNP variant of the hepatocyte nuclear factor 1 α gene, whose protein is involved in development and function of pancreatic β cells (17).”
Sharmine, S., Legøy, T. A., Unger, L., Paulo, J. A., Ghila, L., & Chera, S. (2025) · Acta Physiologica · doi:10.1111/apha.70121 · Cited by 3
“Interestingly, the prerequisite of a homozygous mutation state for observable effects on glycemia control is not a consequence of confining the mutation to the beta-cell lineage, as this is also the case for the current murine disease models with full-body Hnf1a mutation [13, 22, 24, 46, 47].”
Molecular mechanisms of congenital hyperinsulinism and prospective therapeutic targets
Nessa, A., Rahman, S. A., & Hussain, K. (2015) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2015.1064819 · Cited by 2
“Hnf1a null mice have been shown to promote the dysregulation of insulin action; however, the exact mechanism remains unknown [37].”
BackgroundCharison, J., Wicklow, B. A., Dean, H., & Sellers, E. A. C. (2016) · Canadian Journal of Diabetes · doi:10.1016/j.jcjd.2015.10.003 · Cited by 3
Molecular cloning and characterization of the anti-obesity gene adipose in pig
Wu, Y., Long, Q., Feng, B., Zhu, X. A., Zheng, Z., Gao, S., Gao, M., Gan, L., Zhou, L., & Yang, Z. (2012) · Gene · doi:10.1016/j.gene.2012.07.087 · Cited by 2
Role of HNF-1α and HNF-1β on insulin, IGF-1 and other potential target genes
Kitanaka, S. (2008) · Expert Review of Endocrinology & Metabolism · doi:10.1586/17446651.3.4.441 · Cited by 2
Development of the Endocrine Pancreas
Hebrok, M., & German, M. S. (2015) · Elsevier eBooks · doi:10.1016/b978-0-323-18907-1.00030-5 · Cited by 2
Hepatocyte nuclear factor 1 negatively regulates amylin gene expression
Green, J., Naot, D., & Cooper, G. J. S. (2003) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2003.09.046 · Cited by 2
Glucose homeostasis: lessons from knockout mice
Nakae, J., Kido, Y., Kitamura, T., & Accili, D. (2001) · Current Opinion in Endocrinology & Diabetes · doi:10.1097/00060793-200104000-00005 · Cited by 2
HASTER is a transcriptional stabilizer of HNF1APreprint
Beucher, A., Miguel-Escalada, I., Balboa, D., Vas, M. G. D., Maestro, M., García-Hurtado, J., Bernal, A., Gonzalez-Franco, R., Vargiu, P., Heyn, H., et al. (2021) · bioRxiv · doi:10.1101/2021.05.12.443907 · Cited by 2
Rosa, S. L., Furlan, D., Sessa, F., & Capella, C. (2004) · Humana Press eBooks · doi:10.1007/978-1-59259-403-0_16 · Cited by 2
D’Amico, S., Dar, U., Eckberg, K., Weisser, I. D., Hossain, C., Bronstein, R. D., & Aboudehen, K. (2026) · Scientific Reports · doi:10.1038/s41598-026-35234-w · Cited by 1
Collecting new targets in MODY
Kaestner, K. H. (2005) · Cell Metabolism · doi:10.1016/j.cmet.2005.11.007 · Cited by 1
Genetically Programmed Defects in β-Cell Function
Pal, A., & Gloyn, A. L. (2011) · Springer eBooks · doi:10.1007/978-1-4419-6956-9_13 · Cited by 1
Qu, H., & Polychronakos, C. (2009) · Humana Press eBooks · doi:10.1007/978-1-60327-250-6_21 · Cited by 1
Differentially Expressed Proteins in the Pancreas of Diabetic Mice
Qiu, L. (2005) · OhioLink ETD Center (Ohio Library and Information Network) · Cited by 1
HNF1A-MODY Mutations in Nuclear Localization Signal Impair HNF1A-Import Receptor KPNA6 Interactions
Asaad, F., Korulu, Ş., Özbil, M., & Çapan, Ö. Y. (2021) · The Protein Journal · doi:10.1007/s10930-020-09959-0 · Cited by 1
“Animal models and patients with HNF1A deficiency display an impairment in insulin expression and secretion [7, 8].”
BackgroundPax4 and Pax6 in Islet Differentiation
Zhou, X., & Gruss, P. (2001) · Endocrine updates · doi:10.1007/978-1-4615-1669-9_14 · Cited by 1
β‐Cell Biology of Insulin Secretion
Wollheim, C. B., & Maechler, P. (2003) · Wiley eBooks · doi:10.1002/0470862092.d0204 · Cited by 1
Timsit, J., Bellanné‐Chantelot, C., & Velho, G. (2006) · EMC - Endocrinologie - Nutrition · doi:10.1016/s1155-1941(06)41115-x · Cited by 1
Self-citationDiabetes tipo MODY: la diabetes del adulto en la etapa infanto-juvenil
Ayala, A.-E. G. (2010) · Medwave · doi:10.5867/medwave.2010.02.4415 · Cited by 1
“Aunque no se conoce bien la fisiopatología de la hiperglicemia de la diabetes subtipo MODY 3, probablemente intervienen la señalización glucolítica defectuosa y una producción mitocondrial anormal de adenosintrifosfato en las células beta pancreáticas (27, 28).”
BackgroundFunction of HNF1 in the pathogenesis of diabetes
Rhoads, D. B., & Levitsky, L. L. (2008) · Expert Review of Endocrinology & Metabolism · doi:10.1586/17446651.3.3.391 · Cited by 1
Monogenic Forms of Diabetes in the Young
Vaxillaire, M., & Froguel, P. (2008) · CRC Press eBooks · doi:10.3109/9781420047981-12 · Cited by 1
Self-citationHeterozygous Hnf1a Mutation in Mice Reveals Multiple Pathogenic Mechanisms of HNF1A-MODYPreprint
Bonner, C., Acosta-Montalvo, A., Louvet, I., Saponaro, C., Moreno-Lopez, M., Thévenet, J., Delalleau, N., Gmyr, V., Giacobini, P., Espiard, S., et al. (2025) · Research Square · doi:10.21203/rs.3.rs-6369014/v1 · Cited by 1
Unger, L., Larsen, U., Legøy, T. A., Hossain, M. K., Gudmestad, J. H., Friestad, A., Sharmine, S., Njølstad, P., Ræder, H., Herrera, P., et al. (2026) · Genes & Development · doi:10.1101/gad.353153.125 · Cited by 2
“…stunted growth, reduced pancreatic islet size and fitness, hepatomegaly (Lee et al. 1998), elongated intestine (Lussier et al. 2010), kidney complications (Pontoglio et al. 1996), and defective glucose regulation, among others (Pontoglio et al. 1998; Ser-vitja et al. 2009; Mathisen et al. 2024).”
Anàlisi de l'expressió dels gens ParaHox al páncrees endocrí
Urgell, A. R. (2004) · Tesis Doctorals en Xarxa (Consorci de Serveis Universitaris de Catalunya)
Monogenic diabetes and pancreatic exocrine dysfunction in mouse and man
Vesterhus, M. N. (2009) · NORA - Norwegian Open Research Archives
Atypical Forms of Type 2 Diabetes
Simha, V., & Garg, A. (2008) · Humana Press eBooks · doi:10.1007/978-1-60327-043-4_27
Cell Cycle Regulation in Human Pancreatic Beta Cells
Fiaschi‐Taesch, N., Harb, G., Karsiloglu, E., Takane, K. K., & Stewart, A. F. (2009) · Humana Press eBooks · doi:10.1007/978-1-60761-366-4_3
Tiermodelle in der biomedizinischen Forschung
Britsch, S., Strehle, M., & Birchmeier, C. (2003) · Springer eBooks · doi:10.1007/978-3-662-07588-3_10
Estudio genético de diabetes en la población de Castilla y León
Ruano, E. G. (2010) · Gredos (University of Salamanca) · doi:10.14201/gredos.76497
Pramfalk, C. (2009) · Figshare
Mouse Models of Type 2 Diabetes
Accili, D., & Park, B. (2001) · Endocrine updates · doi:10.1007/978-1-4615-1597-5_9
Santulli, G., Pagano, G., Sardu, C., Xie, W., Reiken, S. R., Cannone, M., Marziliano, N., Trimarco, B., Guise, T. A., Lacampagne, A., et al. (2015)
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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