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Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling
Dawid Skoczek1,2, Józef Dulak2, Neli Kachamakova-Trojanowska1
1Malopolska Centre of Biotechnology, Jagiellonian University, 30-387 Krakow, Poland.
Abstract:
Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous group of monogenic endocrine disorders that is characterised by autosomal dominant inheritance and pancreatic β-cell dysfunction. These patients are commonly misdiagnosed with type 1 or type 2 diabetes, as the clinical symptoms largely overlap. Even though several biomarkers have been tested none of which could be used as single clinical discriminator. The correct diagnosis for individuals with MODY is of utmost importance, as the applied treatment depends on the gene mutation or is subtype-specific. Moreover, in patients with HNF1A-MODY, additional clinical monitoring can be included due to the high incidence of vascular complications observed in these patients. Finally, stratification of MODY patients will enable better and newer treatment options for MODY patients, once the disease pathology for each patient group is better understood. In the current review the clinical characteristics and the known disease-related abnormalities of the most common MODY subtypes are discussed, together with the up-to-date applied diagnostic criteria and treatment options. Additionally, the usage of pluripotent stem cells together with CRISPR/Cas9 gene editing for disease modelling with the possibility to reveal new pathophysiological mechanisms in MODY is discussed.
Insights
Maturity-onset diabetes of the young (MODY) is often misdiagnosed due to overlapping symptoms with other diabetes types. Accurate genetic diagnosis is crucial for subtype-specific treatment and monitoring, improving patient outcomes.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Maturity-onset diabetes of the young (MODY) comprises monogenic disorders of pancreatic beta-cell dysfunction, often misdiagnosed as type 1 or type 2 diabetes.
- Clinical overlap in symptoms and lack of single discriminatory biomarkers complicate MODY diagnosis.
- Accurate diagnosis is vital as MODY treatments are gene mutation and subtype-specific.
Purpose of the Study:
- To review clinical characteristics, genetic abnormalities, diagnostic criteria, and treatment options for common MODY subtypes.
- To discuss the potential of pluripotent stem cells and CRISPR/Cas9 gene editing for MODY disease modeling and understanding pathophysiology.
Main Methods:
- Review of existing literature on MODY subtypes, clinical presentations, and diagnostic approaches.
- Exploration of advanced research methodologies including pluripotent stem cells and CRISPR/Cas9 gene editing for disease modeling.
Main Results:
- Discussion of clinical features and known abnormalities for prevalent MODY subtypes.
- Overview of current diagnostic criteria and therapeutic strategies.
- Highlighting the potential of stem cell and gene editing technologies for uncovering novel pathophysiological mechanisms.
Conclusions:
- Precise diagnosis of MODY is essential for tailored treatment and management, particularly for HNF1A-MODY patients with high vascular complication risks.
- Stratification of MODY patients is key to developing targeted therapies.
- Advanced tools like pluripotent stem cells and CRISPR/Cas9 offer promising avenues for deeper understanding and future treatment innovations in MODY.
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