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. 2020 Dec;70(3):488-497.
doi: 10.1007/s12020-020-02413-2. Epub 2020 Jul 12.

Insulin gene mutations and posttranslational and translocation defects: associations with diabetes

Borros Arneth  1
Affiliations

Insulin gene mutations and posttranslational and translocation defects: associations with diabetes

Borros Arneth. Endocrine. 2020 Dec.

Abstract

The mechanism underlying the pathogenesis of diabetes is complex and poorly understood. Recent investigations have revealed that insulin gene mutations can lead to the development of specific subtypes of diabetes. This systematic review aimed to explore the associations of insulin gene mutations and insulin translocation defects with diabetes. This review was generated using articles from PsycINFO, PubMed, Web of Science, and CINAHL. Search terms and phrases such as "diabetes," "mutations," "insulin," "preproinsulin," "INS gene," "role," "VNTR polymorphisms," and "INS promotor" were used to identify articles relevant to the research topic. The gathered data showed the significant role of insulin gene mutations and insulin translocation defects during diabetes development and progression. Genetic changes can adversely affect the development of various types of diabetes, such as neonatal diabetes mellitus and MIDY. Genetic alterations can affect insulin production, thus compromising the regulation of glucose utilization by tissues. Targeting insulin gene mutations is a potential new avenue for diagnosing and managing diabetes. There are specific subcategories of diabetes, such as MIDY and neonatal diabetes mellitus, caused by insulin gene mutations and defects in posttranslational modification. Further investigations are needed to examine the diagnostic and therapeutic potential of mutation-based biomarkers.

Keywords: Diabetes; Insulin; Mutations; Translation; Translocation.

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