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"I’ve been working with iTL over the past 5 years in the production of 3 different genetically altered mice. Not only did iTL help in the design of the mice, […]” - Raghu Mirmira, MD, PhD University of Chicago.
When it comes to the study of disease through genetic means, point mutation diseases are among the most important to consider. Whether we’re talking about single or multiple point mutations, the protein function that is affected by these types of mutations can range from benign to severe. In some cases, it can also be beneficial. However, when diseases are present, studying the specific point mutations that can induce them might be essential to finding a cure for anything from certain types of cancer to rare diseases like Tay-Sachs.
Point mutation diseases don’t always have to be the end result. In many instances, the consequences of a point mutation are neutral or even beneficial gene function. In fact, point mutations are responsible for the adaptation of certain organisms to adverse situations, that leads to evolution. Neutral mutations are also common when the change of one or more nucleotides doesn’t lead to a non-conservative missense mutation. This shows just how powerful point mutations truly are. That power is further increased when we learn that these mutations can also be used to induce certain diseases just by changing a single base pair. Researchers often use this action on purpose to study point mutations, point mutation diseases, and any potential therapies and treatments that can be effective against the generated conditions.
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The study of diseases induced by point mutations take researchers frequently into the realm of the complexity of the human immune system. Primary immune system problems can be linked to specific gene defects that can be caused by point mutations. Scientists Troy Torgerson and Hans Ochs have studied the problem in great detail in 2014, and have come to the conclusion that enzyme replacement therapy can be an efficient way to counteract the problem, depending on the specific gene defect.
RELATED: Point Mutation Mouse Models
Tay-Sachs disease is one of those point mutation diseases that you don’t often hear about. However, it is very real, and the genetic defect that causes it is often passed down from parent to child. The defect is in the HEXA gene, on chromosome 15. This gene plays an important role in the function of the nervous system, and its impairment can lead to dangerously high levels of fatty tissue in the brain and spinal cord.
If the point mutation occurs in multiple tumor suppressors, the result is cancer. Now, the problem with cancer is that there are as many different types of it as there are potential genetic defects that can cause it. As a result, for example, a defect in the Adenomatous Polyposis Coli, caused by a point mutation, will lead to tumorigenesis. In the case of some types of cancer, such as prostate cancer, the effects are more unique. Prostate cancer has the lowest rate of point mutations compared to other forms of cancer, however, the frequency of point mutations measured in different samples of prostate cancer tumors tends to vary greatly. This goes to show that point mutation diseases are far more difficult to fully comprehend than we think, and a significant amount of research is still required.
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