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Undiagnosed MODY: Time for Action.

Jeffrey W Kleinberger1, Toni I Pollin2,3

  • 1Division of Endocrinology, Diabetes, and Nutrition and Program in Personalized and Genomic Medicine, Department of Medicine, University of Maryland School of Medicine, 660 West Redwood Street, Room 445C, Baltimore, MD, 21201, USA. jeffrey.kleinberger@som.umaryland.edu.

Current Diabetes Reports
|October 14, 2015
PubMed
Summary
This summary is machine-generated.

Maturity-onset diabetes of the young (MODY) is a rare genetic diabetes. Accurate genetic diagnosis is crucial for proper treatment, yet most cases are misdiagnosed, highlighting the need for broader research and improved diagnostic access.

Keywords:
DiagnosisEpidemiologyMODYMonogenic diabetesNext-generation sequencingPrevalence

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Area of Science:

  • Endocrinology
  • Genetics
  • Diabetes Mellitus Research

Background:

  • Maturity-onset diabetes of the young (MODY) is a monogenic diabetes, comprising at least 1% of all diabetes mellitus cases.
  • Classical MODY presentation includes non-insulin-requiring diabetes in lean, young individuals with autosomal dominant inheritance, but these criteria are not universally applicable.
  • Accurate genetic diagnosis is vital for appropriate MODY treatment, yet approximately 95% of US cases are misdiagnosed.

Purpose of the Study:

  • To review current epidemiological studies on MODY prevalence and characteristics across diverse populations.
  • To identify barriers and opportunities for improving access to accurate MODY diagnosis.
  • To discuss the impact of emerging genetic sequencing technologies on MODY diagnosis and research.

Main Methods:

  • Literature review of epidemiological studies on MODY.
  • Analysis of diagnostic challenges and misdiagnosis rates in MODY.
  • Evaluation of next-generation sequencing (NGS) in MODY detection and research.

Main Results:

  • MODY prevalence and characteristics are well-documented in specific populations (e.g., UK, Norway) but understudied in others (e.g., African, Latino ethnicities).
  • Significant diagnostic challenges exist, with a high misdiagnosis rate (~95%) in the USA.
  • NGS technologies are enhancing diagnostic feasibility but also identifying genetic variants of unknown clinical significance.

Conclusions:

  • There is a critical need for expanded epidemiological research on MODY in underrepresented ethnic groups.
  • Overcoming diagnostic barriers is essential to ensure all individuals with MODY receive timely and correct treatment.
  • Advancements in genetic sequencing offer opportunities for improved MODY diagnosis and personalized diabetes management.