First thing’s first, defining Crohn’s Disease. The A.D.A.M. Medical Encyclopedia defines Crohn's disease as “a form of inflammatory bowel disease (IBD). It usually affects the intestines, but may occur anywhere from the mouth to the end of the rectum (anus).” It’s a chronic disease, meaning it doesn’t outright kill you, but you will always have it. The opposite of chronic is terminal, like cancer, so you can have perspective on the difference. A majority of patients who have it are Caucasian, with a European descent.
Now, I have an 18 year old cousin who personally has the disease, and let me tell you; the Medical Encyclopedia’s definition shows nothing about what an actual person with the disease goes through. There are radiation treatments for the cysts that form in the body, there are multiple pills and shots, and you are on such a strict diet due to what can affect your body. And there is no cure for Crohn’s, and they don’t even know what causes it. However, I read an article where they are starting to figure out that there are some genes that can cause a person to be more susceptible to getting the disease.
Now, finding genes that makes you more susceptible doesn’t necessarily mean they cause it. Environment does play an important factor in getting Crohn’s disease, it just isn’t entirely known how. There are certain genes that control certain things like pattern recognition receptors which are part of the immune system. They help identify pathogens and show damages that need to be fixed in the body. A gene that is actually quite crucial to pattern recognition receptors is CARD15 or Caspase Recruitment Domain Family member 15, which seems to not only show that people with it are susceptible, but also that it, is a “gene-modifier” for Crohn’s Disease.
CARD15 is involved with genes who serve as resistance to infections. There are 30 polymorphisms (possible changes) in the gene itself, three of which are common. The three are involved in 82% percent of the mutations that happen in the CARD15 gene, one being 1007fsinsC, which shows a lack of 33 amino acids that are involved in the activation of the transcription NF-κB. The reason CARD15 is important is because it deal with proteins and recognizes certain bacteria that are harmful.
To show its importance to Crohn’s disease in general, CARD15 mutations are found in 35 to 40% of Caucasian patients with Crohn’s disease.
There are also many other areas that genes are being found to affect when it comes to Crohn’s, including the epithetial’s that line the intestinal tract and secondary immune response.
Finding the genetic mutations that can make one susceptible to getting any IBD is actually an amazing breakthrough for Crohn’s disease and for other IBD’s, because little has been known about where the disease stems from and how to cure it leaving many, like my cousin, without hope of being rid of the disease in their lifetime.
This breakthrough could give better treatment to patients, and hope that there will be a day that they won’t have to worry about the disease affecting their everyday life.
-April See
Tsianos, Epameinondas, Konstantinos Katsanos, and Vasileios Tsianos. "Role of genetics in the diagnosis and prognosis of Crohn's disease." World J Gastroenterol.. 18.2 (2012): 105-118. Web. 18 Mar. 2012.
Since the CARD-15 gene deals with caspases and caspases are involved with apoptosis, do the mutations in the gene inhibit apoptosis and causes the cysts to form? Also by knowing the mutations that occur what kind of treatment would be used for the disease? Katie M.
ReplyDeleteIn this case it seems the CARD-15 gene mutations doesn't inhibit the apoptosis and caspases, however the article does mention several other ways that apoptosis changes are involved including STAT3 deactivation and Chemokines. However, there isn't indication yet that this is exactly what causes the cysts in Crohn's patients. At least based off my article anyway.
ReplyDeleteFor the kind of treatment, it's difficult to say at this point. There is possibly gene therapy but even with something like STAT3 which "is one of the crucial targets for the treatment of IBD. However, as the receptors of these cytokines and growth factors are present in both innate and acquired cells, activation of STAT3 is likely to occur in both cell types. Therefore as the function of STAT3 is a double-edged sword, careful attention should be directed toward the cell population that is being targeted when one contemplates STAT3 inhibition or activation in human"
And this is how it is for several other genes involved. And while we know genes that are indicators of susceptibility, nothing says that they are in fact the cause. That still has yet to be determined, so at this point all they could do is possibly lessen the symptoms.
That was my response to her questions, sorry forgot my name - April
ReplyDeleteThis seems like a very interesting article. I too have a friend who has Chron's disease and I do not think anyone really understands except for people who have it how painful and debilitating this disease is. It seems that there is a lot of research being done out there on finding the cause of this disease and I hope that a cure is found soon because I have personally seen how limited a person can be because of Chron's.
ReplyDeleteKaitlyn Culler