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Genetic Basis of Monogenic Diabetes


Affiliations
1 Department of Molecular Genetics, Madras Diabetes Research Foundation, #20, Golden Jubilee Biotech Park for Women Society, SIPCOT, Siruseri, Chennai 603 103, India
 

Advances in the understanding of monogenic causes of diabetes and the discovery of single-gene mutations responsible for different phenotypes have greatly increased our knowledge of β-cell physiology. Such advances have had implications for the individual patient diagnosed with the specific monogenic cause of diabetes, especially in maturity onset diabetes of the young (MODY) and neonatal diabetes mellitus (NDM). Genetic diagnosis of MODY is also likely to have important prognostic and therapeutic implications in majority of the patients with confirmed HNF1A and HNF4A mutations. Genetic screening and analyses have helped several neonatal infants carrying mutations in the KCNJ11 and ABCC8 genes to shift from insulin treatment to oral sulphonylurea drugs. The progress in genomics of monogenic diabetic forms has helped in translating the discoveries from bench to bedside in clinical care. Therefore, there is an urgent need to incorporate genetic testing for the genes implicated in monogenic diabetes like MODY and NDM in the diabetes clinics. Discoveries in genetic research methodology and understanding of genetic etiology will have great translational implications for disease treatment and follow-up.

Keywords

Genetic Screening, Maturity Onset Diabetes of the Young, Monogenic Diabetes, Neonatal Diabetes, Precision Medicine.
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  • Genetic Basis of Monogenic Diabetes

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Authors

V. Radha
Department of Molecular Genetics, Madras Diabetes Research Foundation, #20, Golden Jubilee Biotech Park for Women Society, SIPCOT, Siruseri, Chennai 603 103, India
V. Mohan
Department of Molecular Genetics, Madras Diabetes Research Foundation, #20, Golden Jubilee Biotech Park for Women Society, SIPCOT, Siruseri, Chennai 603 103, India

Abstract


Advances in the understanding of monogenic causes of diabetes and the discovery of single-gene mutations responsible for different phenotypes have greatly increased our knowledge of β-cell physiology. Such advances have had implications for the individual patient diagnosed with the specific monogenic cause of diabetes, especially in maturity onset diabetes of the young (MODY) and neonatal diabetes mellitus (NDM). Genetic diagnosis of MODY is also likely to have important prognostic and therapeutic implications in majority of the patients with confirmed HNF1A and HNF4A mutations. Genetic screening and analyses have helped several neonatal infants carrying mutations in the KCNJ11 and ABCC8 genes to shift from insulin treatment to oral sulphonylurea drugs. The progress in genomics of monogenic diabetic forms has helped in translating the discoveries from bench to bedside in clinical care. Therefore, there is an urgent need to incorporate genetic testing for the genes implicated in monogenic diabetes like MODY and NDM in the diabetes clinics. Discoveries in genetic research methodology and understanding of genetic etiology will have great translational implications for disease treatment and follow-up.

Keywords


Genetic Screening, Maturity Onset Diabetes of the Young, Monogenic Diabetes, Neonatal Diabetes, Precision Medicine.

References





DOI: https://doi.org/10.18520/cs%2Fv113%2Fi07%2F1277-1286