Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes

• Published in: Genes Vol. 13; no. 1; p. 117
• Main Authors: Marucci, Antonella, Rutigliano, Irene, Fini, Grazia, Pezzilli, Serena, Menzaghi, Claudia, Di Paola, Rosa, Trischitta, Vincenzo
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 09.01.2022; MDPI
• Subjects: actionable genes; Congenital diseases; Diabetes; Diabetes mellitus; Diabetes Mellitus, Type 2 - diagnosis; Diabetes Mellitus, Type 2 - genetics; Fetuses; Genes; Genetic disorders; Genetic screening; Genetic Testing; Glucose; Hepatocyte nuclear factor 4; Humans; Hyperglycemia; individual intervention; Insulin; MODY; monogenic diabetes; Mutation; Neonates; Patients; Peroxisome proliferator-activated receptors; Potassium; Precision Medicine; Review; syndromic diabetes; precision medicine; syndromic diabetes; MODY; monogenic diabetes; individual intervention; actionable genes
• ISSN: 2073-4425; 2073-4425
• DOI: 10.3390/genes13010117

Monogenic diabetes is a genetic disorder caused by one or more variations in a single gene. It encompasses a broad spectrum of heterogeneous conditions, including neonatal diabetes, maturity onset diabetes of the young (MODY) and syndromic diabetes, affecting 1-5% of patients with diabetes. Some of these variants are harbored by genes whose altered function can be tackled by specific actions ("actionable genes"). In suspected patients, molecular diagnosis allows the implementation of effective approaches of precision medicine so as to allow individual interventions aimed to prevent, mitigate or delay clinical outcomes. This review will almost exclusively concentrate on the clinical strategy that can be specifically pursued in carriers of mutations in "actionable genes", including , , , , , , , and . For each of them we will provide a short background on what is known about gene function and dysfunction. Then, we will discuss how the identification of their mutations in individuals with this form of diabetes, can be used in daily clinical practice to implement specific monitoring and treatments. We hope this article will help clinical diabetologists carefully consider who of their patients deserves timely genetic testing for monogenic diabetes.