Personalized Therapies for Monogenic Diabetes

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Background

Monogenic diabetes has three main clinical forms: Maturity Onset Diabetes of the Young (MODY), Neonatal Diabetes Mellitus (NDM), and the syndromes of Severe Insulin Resistance (SIRs). The first two conditions are caused by pathogenic variants in genes that affect pancreatic beta cell function. MODY is an autosomal dominant condition. Among MODY genes, four are considered common: GCK, HNF1A, HNF4A, and HNF1B. While carriers of GCK variants do not need any treatment, patients bearing either HNF1A or HNF4A mutations can respond to oral hypoglycemic agents (OHA) of the class of sulfonylureas or other forms of therapy different from insulin. Another subtype, i.e., the maternally inherited diabetes linked to the frequent mitochondrial mutation m.3243A>G, is actionable and can respond to OHA. Among the 40-something beta cell genes that can cause NDM, at least two (KCNJ11 and ABCC8) account for more than 50% of cases that are actionable, with most carriers reaching optimal metabolic control with sulfonylureas. About 50% of patients with transient neonatal diabetes mellitus (TNDM) may relapse around adolescence and are usually treated with sulfonylureas. Finally, SIRs, depending on subtype, may respond to human recombinant IGF1, leptin, thiazolidinediones, and SGLT2 inhibitors.

This Research Topic aims to provide an updated view of all the different options of treatments for patients with monogenic diabetes. Thus papers on various treatment(s) for patients with pathogenic or likely pathogenic variants in HNF1A, HNF4A, HNF1B, or with m.3243A>G are welcome. In addition, treatment for permanent NDM (PNDM) may vary according to disease pathophysiology (e.g., beta cell defect versus pancreas agenesis or specific therapies for syndromic forms). By paying close attention to the mechanisms of disease and appropriate drug choice for any specific condition (precision medicine) we would like to highlight new treatments and modern ways to administer old therapies. This applies also to various forms of SIRs with diabetes some of which are very difficult to treat. Finally, a goal would be to provide very detailed procedures for adapting current therapies to neonates with very small birth weights, a major hurdle for clinicians.

We welcome mini reviews on specific topics (e.g. sulfonylureas for treating hyperglycemia of patients of any age with diabetes caused by mutations in the KATP channels; treatments for genetic forms of severe insulin resistance, treatments for PNDM due to pancreas agenesis, treatments for autoimmune monogenic PNDM), as well as original data possibly on more than a single case. For case reports bearing pathogenic variants in frequent (HNF1A and HNF4A), actionable MODY genes we suggest presenting data on multiple cases rather than single ones.

All papers must provide full information on the genetic data of patients/conditions described in the manuscript. This will allow an informed judgment on the benefits and/or pitfalls of certain treatments in individuals with a specific monogenic condition associated with diabetes.

All submissions must be in scope for the journal and section to which the article was submitted. Follow journal guidelines for article submission. In particular, Case Reports must include annotated CARE guidelines. Other articles are encouraged to include an annotated EQUATOR checklist appropriate for their article type.

Keywords: Monogenic diabetes, Personalized therapies, Pathogenic variants

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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