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Yahaya TO, Anyebe DA. Genes predisposing to neonatal diabetes mellitus and pathophysiology: Current findings. J Neonatal Perinatal Med. 2020;13(4):543-553doi: 10.3233/NPM-190353.
Yahaya, T. O., & Anyebe, D. A. (2020). Genes predisposing to neonatal diabetes mellitus and pathophysiology: Current findings. Journal of neonatal-perinatal medicine, 13(4), 543-553. https://doi.org/10.3233/NPM-190353
Yahaya, T O, and Anyebe, D A. "Genes predisposing to neonatal diabetes mellitus and pathophysiology: Current findings." Journal of neonatal-perinatal medicine vol. 13,4 (2020): 543-553. doi: https://doi.org/10.3233/NPM-190353
Yahaya TO, Anyebe DA. Genes predisposing to neonatal diabetes mellitus and pathophysiology: Current findings. J Neonatal Perinatal Med. 2020;13(4):543-553. doi: 10.3233/NPM-190353. PMID: 32333556.
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J Neonatal Perinatal Med. 2020;13(4):543-553. doi: 10.3233/NPM-190353.

Genes predisposing to neonatal diabetes mellitus and pathophysiology: Current findings.

Journal of neonatal-perinatal medicine

T O Yahaya, D A Anyebe

Affiliations

  1. Department of Biology, Federal University Birnin Kebbi, Nigeria.
  2. Department of Biochemistry and Molecular Biology, Federal University Birnin Kebbi, Nigeria.

PMID: 32333556 DOI: 10.3233/NPM-190353

Abstract

BACKGROUND: Precision medicine, described as a therapeutic procedure in which complex diseases are treated based on the causal gene and pathophysiology, is being considered for diabetes mellitus (DM). To this end, several monogenetic mutations in the beta cells have been linked with neonatal diabetes mellitus (NDM), however, the list of suspect genes is expansive, necessitating an update. This study, therefore, provides an update on NDM candidate genes and pathophysiology.

RESULTS: Reputable online academic databases were searched for relevant information, which led to the identification of 43 genes whose mutations are linked to the condition. Of the linked genes, mutations in the KCNJ11, ABCC8, and INS genes as well as the genes on 6q24 chromosomal region are the most frequently implicated. Mutations in these genes can cause pancreatic agenesis and developmental errors, resulting in NDM in the first six to twelve months of birth. The clinical presentations of NDM include frequent urination, rapid breathing, and dehydration, among others.

CONCLUSIONS: Monogenetic mutations in the beta cells may cause NDM with distinct pathophysiology from other DM. Treatment options that target NDM candidate genes and pathophysiology may lead to an improved treatment compared with the present generalized treatment for all forms of DM.

Keywords: Beta cell; KCNJ11; pancreatic agenesis; pathophysiology; precision medicine

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