Genetic spectrum of neonatal diabetes

Kočova, Mirjana

doi:10.2478/bjmg-2020-0027

Cited by 4 publications

(4 citation statements)

References 107 publications

(157 reference statements)

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“…A new study investigated 1020 neonatal diabetes patients utilizing a multigene strategy that comprised sequencing of every known gene linked to neonatal diabetes as well as 6q24 methylation tests. Their findings show that this testing technique successfully revealed a genetic reason in 80% of individuals, enabling a more precise prediction of the clinical course, anticipation of subsequent consequences, and the application of targeted medication [ 59 , 60 ].…”

Section: Discussionmentioning

confidence: 99%

Continuous Glucose Monitoring in Transient Neonatal Diabetes Mellitus—2 Case Reports and Literature Review

Chisnoiu,

Balasa,

Mihai

et al. 2023

Diagnostics

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Neonatal diabetes mellitus is a rare genetic disease that affects 1 in 90,000 live births. The start of the disease is often before the baby is 6 months old, with rare cases of onset between 6 months and 1 year. It is characterized by low or absent insulin levels in the blood, leading to severe hyperglycemia in the patient, which requires temporary insulin therapy in around 50% of cases or permanent insulin therapy in other cases. Two major processes involved in diabetes mellitus are a deformed pancreas with altered insulin-secreting cell development and/or survival or faulty functioning of the existing pancreatic beta cell. We will discuss the cases of two preterm girls with neonatal diabetes mellitus in this research. In addition to reviewing the literature on the topic, we examined the different mutations, patient care, and clinical outcomes both before and after insulin treatment.

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Section: Discussionmentioning

confidence: 99%

Continuous Glucose Monitoring in Transient Neonatal Diabetes Mellitus—2 Case Reports and Literature Review

Chisnoiu,

Balasa,

Mihai

et al. 2023

Diagnostics

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“…NDM is classified into transient (TNDM), permanent (PNDM), or syndrome types, which have expressed significant genetic changes causing persistent hyperglycemia, reduced β-cell mass or replication, delayed pancreatic islet development, and impaired insulin secretion [28]. Autosomal recessive or dominant mutations in the preproinsulin (INS) and the ATP-sensitive potassium (K ATP ) channel (very common to KCNJ11 or ATPbinding cassette transporter subfamily C member 8, ABCC8) are the major genes responsible for TNDM and PNDM.…”

Section: An Overview Of Ndmmentioning

confidence: 99%

Exploring the Diet-Gut Microbiota-Epigenetics Crosstalk Relevant to Neonatal Diabetes

Alsharairi

2023

Genes

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Neonatal diabetes (NDM) is a rare monogenic disorder that presents as hyperglycemia during the first six months of life. The link between early-life gut microbiota dysbiosis and susceptibility to NDM remains uncertain. Experimental studies have demonstrated that gestational diabetes mellitus (GDM) could develop into meconium/gut microbiota dysbiosis in newborns, and thus, it is thought to be a mediator in the pathogenesis of NDM. Epigenetic modifications have been considered as potential mechanisms by which the gut microbiota and susceptibility genes interact with the neonatal immune system. Several epigenome-wide association studies have revealed that GDM is associated with neonatal cord blood and/or placental DNA methylation alterations. However, the mechanisms linking diet in GDM with gut microbiota alterations, which may in turn induce the expression of genes linked to NDM, are yet to be unraveled. Therefore, the focus of this review is to highlight the impacts of diet, gut microbiota, and epigenetic crosstalk on altered gene expression in NDM.

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“…The potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) gene encodes the Kir6.2 protein, a structural element of the ATP-dependent potassium channel within pancreatic β-cells [43]. Mutations within this gene may lead to abnormalities in insulin secretion and the development of diabetes, especially in neonates [44,45]. As of yet, there is no indication that epigenetic mechanisms related to KCNJ11 play a role in the development of GDM.…”

Section: Mody 13mentioning

confidence: 99%

Genetic and Epigenetic Factors in Gestational Diabetes Mellitus Pathology

Ustianowski,

Udzik,

Szostak

et al. 2023

IJMS

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Gestational diabetes (GDM) is the carbohydrate intolerance occurring during pregnancy. The risk factors of GDM include obesity, advanced maternal age, polycystic ovary syndrome, multigravidity, a sedentary lifestyle, and pre-existing hypertension. Additionally, complex genetic and epigenetic processes are also believed to play a crucial role in the development of GDM. In this narrative review, we discuss the role of genetic and epigenetic factors in gestational diabetes mellitus pathogenesis.

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Genetic spectrum of neonatal diabetes

Cited by 4 publications

References 107 publications

Continuous Glucose Monitoring in Transient Neonatal Diabetes Mellitus—2 Case Reports and Literature Review

Continuous Glucose Monitoring in Transient Neonatal Diabetes Mellitus—2 Case Reports and Literature Review

Exploring the Diet-Gut Microbiota-Epigenetics Crosstalk Relevant to Neonatal Diabetes

Genetic and Epigenetic Factors in Gestational Diabetes Mellitus Pathology

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