Maturity onset diabetes of the young (MODY)
Open accessAbstract
MODY is a sub‐type of NIDDM. It is characterized by an early age of onset and autosomal dominant mode of inheritance. These features, and the availability of large multigenerational pedigrees, make MODY useful for genetic studies of diabetes. In the large 5‐generational RW pedigree, MODY is tightly linked to genetic markers on chromosome 20q. Affected subjects in this family show abnormalities of carbohydrate metabolism, varying from impaired glucose tolerance (IGT) to severe diabetes. Approximately 30 % of diabetic subjects become insulin‐requiring, and vascular complications occur. MODY is also linked to the glucokinase gene on chromosome 7p and many different mutations associated with MODY have been identified in this gene. MODY, due to mutations in the glucokinase gene, is a relatively mild form of diabetes with mild fasting hyperglycaemia and IGT in the majority. Clinical investigative studies indicate that the genetic or primary defect in MODY is characterized by deranged and deficient insulin secretion and not by insulin resistance. There are quantitative and qualitative differences in insulin secretory defects which differentiate subjects with MODY due to mutation in the gene on chromosome 20q from those with glucokinase mutations. These differences correlate with the severity of diabetes between these two genetic forms of MODY.
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MODY severity varies by mutation: glucokinase mutations are usually mild without long-term complications, while HNF mutations can be as severe as typical type 1 diabetes.
“Depending on the specific MODY mutation, the disease can be mild (e.g., glucokinase mutation) and not usually associated with long-term complications of diabetes, or it can be as severe as typical type 1 diabetes [e.g., hepatocyte nuclear factor (HNF) mutations] (277).”
From Guidelines and recommendations for laboratory analysis in the diagnosis and management of diabetes mellitus (2011) · cites this paper as [277]
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Cited by
Sorted by citations
Sacks, D. B., Arnold, M., Bakris, G. L., Bruns, D. E., Horvath, A. R., Kirkman, M. S., Lernmark, A., Metzger, B. E., & Nathan, D. M. (2011) · Clinical Chemistry · doi:10.1373/clinchem.2010.161596 · Cited by 1,360 · see citing works
“, hepatocyte nuclear factor (HNF) mutations] (277).”
Sacks, D. B., Arnold, M., Bakris, G. L., Bruns, D. E., Horvath, A. R., Kirkman, M. S., Lernmark, A., Metzger, B. E., & Nathan, D. M. (2011) · Diabetes Care · doi:10.2337/dc11-9998 · Cited by 718 · see citing works
“, hepatocyte nuclear factor (HNF) mutations] (277).”
Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice.
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“Maturity-onset diabetes of the young (MODY) 1 is an autosomal dominant form of non–insulin-dependent diabetes mellitus in which affected subjects develop hyperglycemia generally before the age of 25 yr (1, 2).”
BackgroundSelf-citationTYPE 2 DIABETES MELLITUS IN MINORITY CHILDREN AND ADOLESCENTS
Dabelea, D., Pettitt, D. J., Jones, K. L., & Arslanian, S. A. (1999) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(05)70098-0 · Cited by 275 · see citing works
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Defective Pancreatic β-Cell Glycolytic Signaling in Hepatocyte Nuclear Factor-1α-deficient Mice
Dukes, I. D., Sreenan, S., Roe, M. W., Levisetti, M. G., Zhou, Y.-P., Ostrega, D., Bell, G. I., Pontoglio, M., Yaniv, M., Philipson, L. H., et al. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.38.24457 · Cited by 165 · see citing works
Self-citationHorikawa, Y. (2018) · Journal of Diabetes Investigation · doi:10.1111/jdi.12812 · Cited by 63 · see citing works
Perspective: The Search for Genes for Type 2 Diabetes in the Post-Genome Era
Elbein, S. C. (2002) · Endocrinology · doi:10.1210/endo.143.6.8831 · Cited by 62 · see citing works
“(16) called these families MODY (maturity onset diabetes of the young).”
BackgroundGenes and Type 2 Diabetes Mellitus
Luna, M. T. T. (2005) · Archives of Medical Research · doi:10.1016/j.arcmed.2005.03.004 · Cited by 42 · see citing works
Kooptiwut, S., Plengvidhya, N., Chukijrungroat, T., Sujjitjoon, J., Semprasert, N., Furuta, H., & Yenchitsomanus, P. (2012) · Journal of Diabetes and its Complications · doi:10.1016/j.jdiacomp.2012.03.025 · Cited by 31 · see citing works
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PSMD9 gene in the NIDDM2 locus is linked to type 2 diabetes in Italians
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“MODY3 is a monogenic autosomal dominant disorder and is the most common MODY form (Fajans et al., 1996).”
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“MODY3 is a monogenic autosomal dominant disorder and is the most common MODY form (Fajans et al., 1996).”
BackgroundThree novel mutations in MODY and its phenotype in three different Czech families
Bazalová, Z., Rypáčková, B., Brož, J., Brunerová, L., Polak, J., Rušavý, Z., Treslová, L., & Anděl, M. (2010) · Diabetes Research and Clinical Practice · doi:10.1016/j.diabres.2010.01.005 · Cited by 14 · see citing works
Sazdova, I., Gagov, H., Hadzi‐Petrushev, N., Konaktchieva, M. N., Konakchieva, R., & Mladenov, M. I. (2026) · Applied Sciences · doi:10.3390/app16063027 · Cited by 5 · see citing works
Type 2 diabetes can also be multigenerational like MODY
Mohan, V. (2011) · International Journal of Diabetes in Developing Countries · doi:10.1007/s13410-011-0039-x · Cited by 4 · see citing works
“The phenotype of MODY 3 and MODY 1 is characterized by overt, and often severe, diabetes [3, 4, 6, 7].”
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“…leads to stable and mild fasting hyperglycemia due to reduced glucokinase enzyme activity and typically does not require pharmacologic treatment, whereas HNF1A -MODY and HNF4A -MODY are associated with progressive β -cell dysfunction and are often highly responsive to sulfonylurea therapy [1, 9].”
Focusing on Rare Variants Related to Maturity‐Onset Diabetes of the Young in Children
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“It typically manifests as an autosomal dominant mode of inheritance, and the age of onset is usually less than 25 years [2].”
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Maturity-Onset Diabetes of the Young (MODY)
Giuffrida, F. M. A., & Moisés, R. S. (2026) · Contemporary Endocrinology · doi:10.1007/978-3-032-17036-1_8 · Cited by 1 · see citing works
- Authors
- Fajan, S. S., Bell, G. I., Bowden, D. W., Halter, J. B., & Polonsky, K. S.
- Affiliations
- University of Michigan (US)
- Howard Hughes Medical Institute (US)
- University of Chicago (US)
- Venue
- Diabetic Medicine
- Publisher
- Wiley
- Published
- 1996-09
- Volume
- 13
- Issue
- S6
- Pages
- 90-95
- ISSN
- 0742-3071 (ISSN-L)
- OpenAlex
- W4247926345
- Cited by
- 21
- References
- 13
- Citations by year
- 2026: 2 · 2025: 2 · 2018: 1 · 2012: 1
- FWCI
- 1.72
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Diabetic Medicine (publishedVersion)
- Deep Blue (University of Michigan) (submittedVersion)
- Funders
- National Institutes of Health
- Topics
- Health Sciences › Medicine › Surgery › Pancreatic function and diabetes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- maturity-onset diabetes of the young, glucokinase gene, chromosome 20q, chromosome 7p, autosomal dominant inheritance, impaired glucose tolerance, insulin secretion defect, insulin resistance, genetic linkage, fasting hyperglycemia, vascular complications, type 2 diabetes
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