Maturity-onset Diabetes of the Young (MODY)

MDNG EndocrinologyNovember 2010
Volume 12
Issue 8

//Medical Websites

KEGG Pathway Maps: MODY

Operated by the Kyoto University Bioinformatics Center, “GenomeNet is a Japanese network of database and computational services for genome research and related research areas in biomedical sciences.” Here you can find KEGG Pathway Maps which demonstrate each of the “heterozygous mutations in at least five genes encoding transcription factors” known to cause MODY.

//The Educated PatientTM

What is Maturity-onset Diabetes of the Young?

For their “October Special Edition” the editors of Diabetes In Control chose to focus on “Uncommon Diabetes Diagnoses” including monogenic diabetes, neonatal diabetes mellitus, and MODY. The section that covers MODY is short, but explains the genetic origins of the disease, incidence and the risk of inheritance, and why, though it may be confused with type 1 and type 2 diabetes, MODY is not the same as either.

MODY: A Rare Form of "Type 1.5" That is Often Misdiagnosed

Janet Ruhl was diagnosed with type 2 diabetes in 1998, but, “after losing 30 pounds with a low carb diet” and exercising “daily for a year,” found her blood sugar levels to be worse than at the time of diagnosis. Frustrated, she began to question her diagnosis and discovered that she may have MODY, which she claims she is able to keep under control through a low carbohydrate diet (her “latest A1C in October of 2010 was 5.7%). In this article (“MODY — It’s Not Type 1 and Not Type 2, but Something Else”) she compiles all of her research on MODY which is interspersed with information from her personal experience dealing with the condition. Ms. Ruhl is careful to note that her site should not substitute for the care or advice of a physician, but nonetheless, it remains a comprehensive resource for patients looking to gain a better understanding of this lesser-known form of diabetes.

Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young

If you want to direct your patients to a more official patient-focused resource than that of Janet Ruhl, you can’t get much more stamp-of-authenticity than the National Diabetes Information Clearinghouse. This guide explains both MODY and neonatal diabetes mellitus, what a patient should know about genetic testing and counseling, and provides links and contact information for related organizations. Also helpful is a chart that lists all of the subtypes of monogenic forms of diabetes, how common they are, the usual age of onset, the type of inheritance or mutation, treatment, and more.

Harvard Health: MODY

This Harvard Health Publications-authored resource is housed at and covers all of the basic information that any patient could want to know about MODY including symptoms, diagnosis, expected duration, prevention and treatment strategies, prognosis, and recommendations on when to call a doctor.

//Online CME

Genetics: Maturity Onset Diabetes of the Young

Credits: Not Listed

Fee: Not Listed

Expiration Date: September 1, 2011

Multimedia: None

Recognizing that “there are rarer forms of [diabetes] which do not follow simple categorization”, Harvard Medical School has developed this course to help practitioners distinguish MODY from type 1 and type 2 diabetes. The activity explores clinical presentation, diagnostic approaches, therapeutic strategies, and whether “recent genetic discoveries” indicate a need to reclassify monogenic diabetes syndromes “according to a molecular etiology framework;”


Assessment of High-Sensitivity C-Reactive Protein Levels as Diagnostic Discriminator of Maturity-Onset Diabetes of the Young Due to HNF1A Mutations

Journal: Diabetes Care (September 2010)

Authors: Owen K, Thanabalasingham G, James T, et al

Purpose: Though genetic testing is currently the only means to diagnose MODY, “restricted access…leaves many patients with undiagnosed diabetes.” To remedy this, researchers tested the hypothesis that “serum levels of high-sensitivity C-reactive protein (hs-CRP) could represent a clinically useful biomarker for the identification of HNF1A mutations causing maturity-onset diabetes of the young.”

Results: The authors found that “serum hs-CRP levels are markedly lower in HNF1A-MODY than in other forms of diabetes,” making this a potential target for a “widely-available, cost-effective screening test to support more precise targeting of MODY diagnostic screening.”

Maturity-onset Diabetes of the Young: How Many Cases Are we Missing?

Journal: Diabetes Care (May 25, 2010)

Authors: Shields B, Hicks S, Shepherd M, et al

Purpose: Because only genetic testing can confirm a diagnosis of MODY, which “is frequently misdiagnosed as type 1 or type 2 diabetes,” researchers “aimed to compare the regional distribution of confirmed MODY cases in the UK and to estimate the minimum prevalence.”

Results: The authors looked at “UK referrals for genetic testing in 2,072 probands and 1,280 relatives between 1996 and 2009” and found that “MODY was confirmed in 1,177 (35%) patients, with HNF1A (52%) and GCK mutations (32%) being most frequent in probands with MODY.” Because “referral rates and confirmed cases were highly correlated,” the authors conclude that “marked regional variation in prevalence of confirmed MODY directly results from differences in referral rates.” In order to remedy this, “increased referral for diagnostic testing is required if the majority of MODY patients are to have the genetic diagnosis necessary for optimal treatment.”

The Role of Noise and Positive Feedback in the Onset of Autosomal Dominant Diseases

Journal:BMC Systems Biology (June 29, 2010)

Authors: Bosl W, Rong L

Purpose: Bosl and Rong sought to “explore the possible contribution to the onset of autosomal dominant diseases from intrinsic factors, such as those determined by the structure of the molecular networks governing normal cellular physiology.”

Results: Bosl and Rong simulated “model pathways for two autosomal dominant disease, AD polycystic kidney disease and mature onset diabetes of youth.” The “simulations demonstrate that some of the primary disease characteristics are consistent with the positive feedback — stochastic variation theory presented here. This has implications for new drug targets to control these diseases by blocking the positive feedback loop in the relevant pathways.”

Pharma Focus



Brand Name: Glucotrol

Type: Tablet; 2.5 mg, 5 mg, 10 mg (oral administration)

Indication: Adjunct to diet and exercise to improve glycemic control in adults with type 2 diabetes mellitus.


Brand Name: Micronase

Type: Tablet; 1.25 mg, 2.5 mg, 5 mg (oral administration)

Indication: Adjunct to diet and exercise to improve glycemic control in adults with type 2 diabetes mellitus.


Brand Name: Amaryl

Type: Tablet; 1 mg, 2 mg, 4 mg (oral administration)

Indication: Adjunct to diet and exercise to improve glycemic control in adults with type 2 diabetes mellitus.

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