Scholarlink

Purpose <p>Maturity-onset diabetes of the young (MODY) is a transformative factor in today’s pattern of diabetes care. The definition of its genetic basis brings insight into the diabetes processes, opening up possibilities for its early detection through public health strategies and improvement in precision medicine. Current knowledge on MODY has been brought together in this review.</p> Methods <p>Extensive literature review on PubMed and Google Scholar databases was conducted. Studies encompassing (1) genetic underpinnings and their types, (2) the significance of its biomarkers, and (3) diagnostic techniques and treatment modalities were focused upon.</p> Results <p>The disease accounts for 1–2% of all cases of diabetes and is usually misdiagnosed as either Type 1 or Type 2 diabetes. Several genes are involved in the appropriate functioning of pancreatic β-cells and mutations in these genes lead to an impairment in glucose metabolism and insulin secretion. A mild degree of hyperglycaemia, but without ketosis, is typical of MODY, seen mostly in adolescents and young adults. Treatment varies, including sulfonylureas for HNF1A and HNF4A mutations, lifestyle management for GCK mutations, and emerging therapies like GLP1 receptor agonists.</p> Conclusion <p>Proper genetic diagnosis is cardinal to the best management of MODY. Genetic and clinical advances have been impressive in monogenic diabetes, but further research in novel therapies is needed to optimise outcomes with precision medicine.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Decoding MODY: exploring genetic roots and clinical pathways

  • 期刊论文

  • 发表日期：

    2025年3月14日

查看全文
  • Anshuman Phadnis,
  • Diya Chawla,
  • Joanne Alex,
  • Pamela Jha

摘要

Purpose

Maturity-onset diabetes of the young (MODY) is a transformative factor in today’s pattern of diabetes care. The definition of its genetic basis brings insight into the diabetes processes, opening up possibilities for its early detection through public health strategies and improvement in precision medicine. Current knowledge on MODY has been brought together in this review.

Methods

Extensive literature review on PubMed and Google Scholar databases was conducted. Studies encompassing (1) genetic underpinnings and their types, (2) the significance of its biomarkers, and (3) diagnostic techniques and treatment modalities were focused upon.

Results

The disease accounts for 1–2% of all cases of diabetes and is usually misdiagnosed as either Type 1 or Type 2 diabetes. Several genes are involved in the appropriate functioning of pancreatic β-cells and mutations in these genes lead to an impairment in glucose metabolism and insulin secretion. A mild degree of hyperglycaemia, but without ketosis, is typical of MODY, seen mostly in adolescents and young adults. Treatment varies, including sulfonylureas for HNF1A and HNF4A mutations, lifestyle management for GCK mutations, and emerging therapies like GLP1 receptor agonists.

Conclusion

Proper genetic diagnosis is cardinal to the best management of MODY. Genetic and clinical advances have been impressive in monogenic diabetes, but further research in novel therapies is needed to optimise outcomes with precision medicine.