New study throws light on the mechanisms behind neonatal diabetes.
Insulin is secreted from the beta cells which are located in the pancreas, and it is crucial for the maintenance of normal blood sugar levels. Deficiency of insulin leads to diabetes, characterized by elevated blood sugar. Diabetes most commonly presents in childhood as Type 1 diabetes and in adults as Type 2 diabetes.
Monogenic Forms of Diabetes
The most common types of diabetes, Type 1 and Type 2 are polygenic meaning developing from multiple genes.
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‘A new study uncovers the mechanisms behind neonatal diabetes. Scientists have described mechanisms linking chronic cellular stress to the poor development of the insulin-producing cells.’
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Sometimes diabetes is diagnosed already in very small babies, during the first six months of life. In these cases, mutations in the gene encoding insulin are often found.
These mutations are only found in one copy of the gene; that means that half of the produced insulin is normal, which should be enough to secure normal blood sugar. However, this is not the case: insulin secretion stops totally after a few months. It is believed that this is caused by a toxic effect of the mutant insulin inside the cell, but the exact mechanisms are poorly understood.
![Neonatal Diabetes Often Confused With Type 1 Diabetes]( "Neonatal Diabetes Often Confused With Type 1 Diabetes")
Neonatal diabetes affecting babies less than six months of age are started on insulin as it is often confused with Type 1 diabetes.
Mutant insulin is known to cause a chronic stress reaction in the beta cell, and it has been thought that this leads to the death of the cell. It is important to understand the detailed consequences of beta-cell stress, because this may help to develop drugs for the prevention of both rare and common forms of diabetes.
"We now had the chance to test this with real patient-derived cells," tells Professor Timo Otonkoski from the University of Helsinki.
Researchers created a human disease model using stem cells from people carrying insulin gene mutations; then they corrected cells using a gene-editing technique called CRISPR. The mutant and corrected stem cells were then induced to turn into insulin-secreting beta cells, and the researchers followed the function of the cells after transplanting them in mice.
"The main finding of the study was that these cells do not die from the chronic stress, but their growth and development is disturbed. These effects are mediated through processes that could potentially be targeted by drugs", Dr. Diego Balboa says.
"In this study, we describe mechanisms linking chronic cellular stress to the poor development of the insulin-producing cells. A strongly reduced number of beta-cells will cause diabetes immediately, but even a milder defect will increase the risk of diabetes later in life. Understanding the molecular mechanisms of these processes may help in devising ways to preserve the mass and function of beta cells", Otonkoski states.
Source: Eurekalert
Neonatal Diabetes Often Confused With Type 1 Diabetes
Neonatal diabetes affecting babies less than six months of age are started on insulin as it is often confused with Type 1 diabetes.
Advertisement
Mutant insulin is known to cause a chronic stress reaction in the beta cell, and it has been thought that this leads to the death of the cell. It is important to understand the detailed consequences of beta-cell stress, because this may help to develop drugs for the prevention of both rare and common forms of diabetes.
"We now had the chance to test this with real patient-derived cells," tells Professor Timo Otonkoski from the University of Helsinki.
Researchers created a human disease model using stem cells from people carrying insulin gene mutations; then they corrected cells using a gene-editing technique called CRISPR. The mutant and corrected stem cells were then induced to turn into insulin-secreting beta cells, and the researchers followed the function of the cells after transplanting them in mice.
"The main finding of the study was that these cells do not die from the chronic stress, but their growth and development is disturbed. These effects are mediated through processes that could potentially be targeted by drugs", Dr. Diego Balboa says.
"In this study, we describe mechanisms linking chronic cellular stress to the poor development of the insulin-producing cells. A strongly reduced number of beta-cells will cause diabetes immediately, but even a milder defect will increase the risk of diabetes later in life. Understanding the molecular mechanisms of these processes may help in devising ways to preserve the mass and function of beta cells", Otonkoski states.
Source: Eurekalert
Research: Muscular Problems in Children With Neonatal Diabetes are Neurological
New research indicates that the muscle weakness and coordination problems sometimes seen in patients with neonatal diabetes are caused by problems in the brain
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 Babies With Diabetes can Safely be Treated With Sulphonylurea TabletsBabies with neonatal diabetes can be safely and effectively treated with sulphonylurea tablets instead of insulin injections, revealed study. | Advertisement
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