Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene.

@article{Gragnoli1997MaturityonsetDO,
  title={Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene.},
  author={Claudia Gragnoli and Tom H. Lindner and Brian N. Cockburn and Pamela Jane Kaisaki and F Gragnoli and Giovanni Marozzi and Graeme I. Bell},
  journal={Diabetes},
  year={1997},
  volume={46 10},
  pages={1648-51}
}
Recent studies have shown that mutations in the transcription factor hepatocyte nuclear factor (HNF)-1 alpha are the cause of one form of maturity-onset diabetes of the young (MODY3). These studies have identified mutations in the mRNA and protein coding regions of this gene that result in the synthesis of an abnormal mRNA or protein. Here, we report an Italian family in which an A-->C substitution at nucleotide-58 of the promoter region of the HNF-1 alpha gene cosegregates with MODY. This… CONTINUE READING