par Sanchez Caballero, Laura 
;Gorgogietas, Vyron ;Arroyo, Maria Nicol ;Igoillo Esteve, Mariana
Référence International Review of Cell and Molecular Biology, 359, page (139-256)
Publication Publié, 2021-06-01
;Gorgogietas, Vyron ;Arroyo, Maria Nicol ;Igoillo Esteve, Mariana Référence International Review of Cell and Molecular Biology, 359, page (139-256)
Publication Publié, 2021-06-01
Article révisé par les pairs
| Résumé : | Monogenetic forms of diabetes represent 1%-5% of all diabetes cases and are caused by mutations in a single gene. These mutations, that affect genes involved in pancreatic β-cell development, function and survival, or insulin regulation, may be dominant or recessive, inherited or de novo. Most patients with monogenic diabetes are very commonly misdiagnosed as having type 1 or type 2 diabetes. The severity of their symptoms depends on the nature of the mutation, the function of the affected gene and, in some cases, the influence of additional genetic or environmental factors that modulate severity and penetrance. In some patients, diabetes is accompanied by other syndromic features such as deafness, blindness, microcephaly, liver and intestinal defects, among others. The age of diabetes onset may also vary from neonatal until early adulthood manifestations. Since the different mutations result in diverse clinical presentations, patients usually need different treatments that range from just diet and exercise, to the requirement of exogenous insulin or other hypoglycemic drugs, e.g., sulfonylureas or glucagon-like peptide 1 analogs to control their glycemia. As a consequence, awareness and correct diagnosis are crucial for the proper management and treatment of monogenic diabetes patients. In this chapter, we describe mutations causing different monogenic forms of diabetes associated with inadequate pancreas development or impaired β-cell function and survival, and discuss the molecular mechanisms involved in β-cell demise. |
