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Thursday 3 March 2011

Which alleles influence human disease susceptibility for diabetes

Genetic studies are increasingly being used to identify specific alleles that affect human susceptibility to disease. This particular study focused on the alleles believed to be associated with type 1 diabetes. Type 1 diabetes occurs when the pancreas does not produce enough of the hormone insulin. This insulin is necessary to transport blood sugar into cells. Without the proper amount of insulin in the body, glucose builds up in the blood instead of going to the cells to be used for energy.

In the study in the article cells were used from the individual patients using the logic of genetic interaction screens. Small-molecule probes were used to look at how small molecules, like specific drugs, interacted and functioned in the presence or absence of the mutation. In order to find these interactions, the authors look for the small molecules that induce particular phenotypes, or observable characteristics, of the disease. The measurements found can focus on specific biological pathways to measure the cell function and/or capability. The effects of the small-molecule tests were measured using a luminescence assay for the content of cellular assay. This ATP assay is chosen because ATP concentrations in the pancreas indicate insulin secretion.

The research was conducted on a family with a history of the type 1 diabetes, looking at 10 members with the disease and 8 members without. The affected members were found to have a mutation called Q268X nonsense mutation. This change in DNA sequence causes damaged DNA binding to occur. In this impaired binding, the specific receptor associated with the function of the liver and the pancreas, called the HNF4α, shows low expression levels as well. Overall, the data that was found showed that disease allele interactions studied by small-molecule probes can be used to identify mutant pathways associated with the diseases, and also show the effects on the phenotypes of the diseases.

Diabetes is becoming more and more of a problem in society today. Any information that can be used to fight against the increasing number of those affected in the population is beneficial. I was interested in this article because my family has a history of diabetes, and wanted to know more information about various causes of the disease. What I took from this article was that specific genes are linked to increased insulin secretion, leading to various forms of diabetes. Targeting specific molecules that interact with the pathway to secrete insulin can allow for more specific drugs to be developed to aid in the balance of this insulin production. The information and processes used to examine the small-molecule probes is fascinating. This approach can not only be used for diabetes but also in to detect the presence of other mutant alleles associated with diseases, and taking patient-derived cells allows the scientist to really look at individual genetics and the interactions in complex human diseases. The information found in this type of research can also be used to develop new medications to assist with the symptoms and maybe even reverse the effects of the diseases people are facing today.
~Erin Hodges

1 comment:

  1. When was this study done? This sounds like it could make a big impact on diabetes. I understand the study was on type 1 diabetes, but how would these findings affect type 2 diabetics? Considering that type 2 is caused more by lifestyle than type 1, I imagine the genetics are less the target when looking for a cure, but I'm curious if the same treatments would apply. If the insulin can be regulated through these new medicines my guess is they would apply to both.

    Sarah R

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