Neurod1 gene

The NEUROD1 gene encodes the transcription factor "neurogenic differentiation 1" or NeuroD1, which regulates the expression of the INS gene by binding to the promoter region of the insulin gene. This transcription factor is a member of the NeuroD family (Szopa M et al. 2016). Genes of the NeuroD family encode transcription factors (basic helix-loop-helix - bHLH - transcription factors) that play a role in the differentiation of neurons and pancreatic β cells. Animal experiments have shown that NeuroD1 is able to convert reactive glial cells in mouse brains into functional neurons (Guo Z et al. 2014).

If mutations in the NEUROD1 gene are present, pathologically decreased insulin production occurs(MODY 6). The inheritance is autosomal dominant, the penetrance is very high at approx. 80-90%.

1. Fajans S et al (2019) Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. New Eng J Med 345: 971-980
2. Guo Z et al (2014) In vivo direct reprogramming of reactive glial cells into functional neurons after brain injury and in an Alzheimer's disease model. Cell Stem Cell 14: 188-202.
3. Lee JE et al (1995) Conversion of Xenopus ectoderm into neurons by NeuroD, a basic helix-loop-helix protein. Science 268: 836-844.
4. Liu M et al (2000) Essential role of BETA2/NeuroD1 in development of the vestibular and auditory systems. Genes Dev14: 2839-2854.
5. Szopa M et al (2016) A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing - Clinical characteristics of mutation carriers. Eur J Med gene 59:75-79.