Congenital diabetes mellitus

Iafusco, Dario; Zanfardino, Angela; Bonfanti, Riccardo; Rabbone, Ivana; Tinto, Nadia; Iafusco, F; Meola, Serena; Gicchino, Maria Francesca; Ozen, Gulsum; Casaburo, Francesca; Piscopo, Alessia; Giudice, Emanuele Miraglia del; Barbetti, Fabrizio

doi:10.23736/s0026-4946.20.05838-7

Cited by 5 publications

(2 citation statements)

References 62 publications

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“…Two types of monogenic neonatal diabetes also exist: transient (TNDM), which spontaneously remits, and permanent (PNDM), requiring lasting treatment. It is important to note that TNDM may relapse later in life [ 14 ]. Furthermore, most MIDY and MODY cases are caused by heterozygous mutations, and pathology can involve mutants exerting a dominant negative impact on the expression of the wild-type allele [ 15 ].…”

Section: Introductionmentioning

confidence: 99%

A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease

Ataie-Ashtiani

Forbes

2023

Cells

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The discovery of the insulin hormone over 100 years ago, and its subsequent therapeutic application, marked a key landmark in the history of medicine and medical research. The many roles insulin plays in cell metabolism and growth have been revealed by extensive investigations into the structure and function of insulin, the insulin tyrosine kinase receptor (IR), as well as the signalling cascades, which occur upon insulin binding to the IR. In this review, the insulin gene mutations identified as causing disease and the structural implications of these mutations will be discussed. Over 100 studies were evaluated by one reviewing author, and over 70 insulin gene mutations were identified. Mutations may impair insulin gene transcription and translation, preproinsulin trafficking and proinsulin sorting, or insulin-IR interactions. A better understanding of insulin gene mutations and the resultant pathophysiology can give essential insight into the molecular mechanisms underlying impaired insulin biosynthesis and insulin-IR interaction.

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Section: Introductionmentioning

confidence: 99%

A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease

Ataie-Ashtiani

Forbes

2023

Cells

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“…The conceptual wall that defined pediatric-onset diabetes as “type 1”, “autoimmune”, “insulin-dependent” and adult-onset diabetes as “type 2”, “non-autoimmune”, “non-insulin-dependent” is, like many other walls, finally “collapsing” thanks to the unavoidable attempt to define the exact pathogenesis of each new case [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

The Pathogenic Diagnosis in Pediatric Diabetology: Next Generation Sequencing and Precision Therapy

et al. 2023

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In pediatric diabetology, a precise diagnosis is very important because it allows early and correct clinical management of the patient. Monogenic diabetes (MD), which accounts for 1–6% of all pediatric–adolescent diabetes cases, is the most relevant example of precision medicine. The definitive diagnosis of MD, possible only by genetic testing, allows us to direct patients to more appropriate therapy in relation to the identified mutation. In some cases, MD patients can avoid insulin and be treated with oral hypoglycemic drugs with a perceptible impact on both the quality of life and the healthcare costs. However, the genetic and phenotypic heterogeneity of MD and the overlapping clinical characteristics between different forms, can complicate the diagnostic process. In recent years, the development of Next-Generation Sequencing (NGS) methodology, which allows the simultaneous analysis of multiple genes, has revolutionized molecular diagnostics, becoming the cornerstone of MD precision diagnosis. We report two cases of patients with clinical suspects of MD in which a genetic test was carried out, using a NGS multigenic panel, and it clarified the correct pathogenesis of diabetes, allowing us to better manage the disease both in probands and other affected family members.

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