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Neonatal diabetes caused by disrupted pancreatic and β-cell development

Elisa De Franco1

  • 1Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK.

Diabetic Medicine : a Journal of the British Diabetic Association
|October 19, 2021
PubMed

Insights

Neonatal diabetes, often caused by single-gene mutations, affects infants before six months. This review explores genetic causes impacting beta-cell development and function, leading to diabetes.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Neonatal diabetes mellitus (NDM) is a rare condition diagnosed before 6 months of age.
  • It is primarily caused by monogenic mutations affecting pancreatic beta-cell development or function.
  • Over 30 genetic causes are known, impacting beta-cell mass or function.

Purpose of the Study:

  • To review genetic causes of NDM related to disrupted beta-cell development.
  • To discuss current knowledge of genetic and phenotypic features of these conditions.
  • To explore future research directions in NDM.

Main Methods:

  • Literature review of genetic causes of neonatal diabetes.
  • Analysis of studies on beta-cell development and function.
  • Synthesis of phenotypic data associated with genetic variants.

Main Results:

  • Seven genes disrupt overall pancreatic development, causing diabetes and exocrine insufficiency.
  • Five genes, encoding transcription factors, cause NDM via impaired beta-cell development, often with extra-pancreatic features.
  • Genetic variations significantly impact beta-cell number and function.

Conclusions:

  • Understanding the genetic basis of NDM is crucial for diagnosis and management.
  • Disrupted beta-cell development is a key mechanism in many NDM cases.
  • Future research will likely uncover more genetic factors and therapeutic targets.

Keywords:
genesneonatal diabetespancreatic developmentβ-cells

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