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Decoding MODY: exploring genetic roots and clinical pathways
Anshuman Phadnis1, Diya Chawla1, Joanne Alex1
1Department of Biological Sciences, Sunandan Divatia School of Science, NMIMS Deemed to Be University, Mumbai, Maharashtra India.
Diabetology International
|April 1, 2025
Summary
Maturity-onset diabetes of the young (MODY) is a genetic diabetes often misdiagnosed. Genetic diagnosis is key for tailored treatments, improving outcomes with precision medicine.
Area of Science:
- Endocrinology
- Genetics
- Metabolic Disorders
Background:
- Maturity-onset diabetes of the young (MODY) represents 1-2% of diabetes cases, frequently misdiagnosed as Type 1 or Type 2 diabetes.
- Understanding MODY's genetic basis offers insights into diabetes pathogenesis and enables precision medicine approaches.
Purpose of the Study:
- To review current knowledge on the genetic underpinnings, biomarkers, diagnostics, and treatment of MODY.
- To highlight the importance of genetic diagnosis for effective MODY management and precision medicine.
Main Methods:
- Comprehensive literature review of studies on PubMed and Google Scholar.
- Focus on genetic factors, biomarkers, diagnostic techniques, and treatment modalities for MODY.
Main Results:
- MODY results from mutations in genes crucial for pancreatic beta-cell function, impacting glucose metabolism and insulin secretion.
- Typical presentation includes mild hyperglycemia without ketosis in adolescents and young adults.
- Treatment strategies vary based on genetic mutations, ranging from sulfonylureas and lifestyle management to emerging therapies.
Conclusions:
- Accurate genetic diagnosis is essential for optimal MODY management.
- Advances in monogenic diabetes research are significant, but novel therapies are needed for precision medicine optimization.
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