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Genetic Dissection and Clinical Features of MODY6 (NEUROD1-MODY)

Yukio Horikawa1, Mayumi Enya2

  • 1Department of Diabetes and Endocrinology, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu city, Gifu, 501-1194, Japan. yhorikaw@gifu-u.ac.jp.

Current Diabetes Reports
|February 23, 2019
PubMed
Abstract

Insights

Maturity-Onset Diabetes of the Young type 6 (MODY6), caused by NEUROD1 gene mutations, is rare. Early genetic diagnosis is crucial for managing hyperglycemia and preventing complications like neurological issues.

Area of Science:

  • Genetics
  • Endocrinology
  • Neurology

Background:

  • MODY6 is a rare subtype of diabetes mellitus caused by mutations in the NEUROD1 gene.
  • Information regarding its clinical presentation and pathogenesis is limited.
  • It is characterized by low penetrance, suggesting influence from genetic and environmental factors.

Purpose of the Study:

  • To review and consolidate all reported cases of MODY6 diagnosed via genetic testing.
  • To provide a detailed examination of the clinical features associated with MODY6.

Main Methods:

  • Systematic review of literature.
  • Analysis of clinical data from genetically confirmed MODY6 cases.

Main Results:

  • Patients with MODY6 may present with chronic hyperglycemia and are at risk of ketosis if undiagnosed.
  • Microvascular complications and neurological abnormalities, including intellectual disability, can occur.
  • Good glycemic control is often achievable without insulin in diagnosed patients.

Conclusions:

  • Early and definitive diagnosis of MODY6 through genetic testing is essential.
  • Prompt diagnosis facilitates timely treatment initiation to prevent chronic hyperglycemia and its associated complications.
Keywords:
Intrauterine environmentMODYNEUROD1Neurological abnormalitiesPNDMβ cell dysfunction

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