ArticleEndocrine2019
A novel mutation in INS gene linked to permanent neonatal diabetes mellitus.
Article in Endocrine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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Who cites it
2 citing papers in PubMed, 5 citations in OpenAlex.
- A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.Cells · 2023Review
- Endoplasmic reticulum stress and destruction of pancreatic β cells in type 1 diabetes.Chinese medical journal · 2020Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
Abstract
purposeNeonatal diabetes mellitus (NDM) is caused by mutations in the genes responsible for pancreatic β cell mass or function. This study aimed to screen the mutations in the KCNJ11, ABCC8, and INS genes in a Chinese patient with clinical features of NDM.
methodsThe entire coding sequence and exon/intron boundaries of KCNJ11, ABCC8, and INS genes were detected by Sanger sequencing. The pathogenicity of the mutation was determined by using online prediction programs SIFT and Mutation Taser. The conformational alterations which contribute to the change of protein function were analyzed at the structural level.
resultsA novel mutation L35Q (B11) of the INS gene was discovered in the patient. As L35 residue contributes to its hydrophobic core of the protein, the L35Q substitution is predicated to affect B19-A20 disulfide bond and therefore disrupt the folding of the proinsulin, which ultimately results in beta cell apoptosis by inducing ER stress.
conclusionsThis case could help us understand the role of the INS mutation in the development of diabetes.
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