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

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...

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Published inGenes 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
LanguageEnglish
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
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Abstract 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.
AbstractList 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 ABCC8, KCNJ11, GCK, HNF1A, HNF4A, HNF1B, PPARG, GATA4 and GATA6. 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.
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 ABCC8 , KCNJ11 , GCK , HNF1A , HNF4A , HNF1B , PPARG , GATA4 and GATA6 . 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.
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.
Author Pezzilli, Serena
Fini, Grazia
Menzaghi, Claudia
Di Paola, Rosa
Rutigliano, Irene
Marucci, Antonella
Trischitta, Vincenzo
AuthorAffiliation 2 Pediatric Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy; i.rutigliano@operapadrepio.it
3 Department of Experimental Medicine, Sapienza University, 00161 Rome, Italy
1 Research Unit of Diabetes and Endocrine Diseases, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy; g.fini@operapadrepio.it (G.F.); s.pezzilli@css-mendel.it (S.P.); c.menzaghi@operapadrepio.it (C.M.); r.dipaola@operapadrepio.it (R.D.P.)
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/35052457$$D View this record in MEDLINE/PubMed
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Keywords precision medicine
syndromic diabetes
MODY
monogenic diabetes
individual intervention
actionable genes
Language English
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Snippet Monogenic diabetes is a genetic disorder caused by one or more variations in a single gene. It encompasses a broad spectrum of heterogeneous conditions,...
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SubjectTerms 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
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Title Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes
URI https://www.ncbi.nlm.nih.gov/pubmed/35052457
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Volume 13
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