This web page was produced as an assignment for Genetics 677, an undergraduate course at UW-Madison.
Popular Press Review of "Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease"[1]
Crohn's disease directly affects around 700,000 people in the United States and until relatively recently, very little was known about the causes of the disease. It has been established that the environment plays a major role in the disease but a recent study suggests genetic involvement as well. Dr. Jean Pierre Hugot and his colleagues at the Human Polymorphism Study Center searched for patterns in genetic variation associated with the disease.
Dr. Hugot and his team tested the DNA of patients suffering from Crohn's disease as well as that of their family members for differences when compared to normal individuals. The change, or variation, most closely associated with the disease was then investigated. It was found that this variation resulted in a mutant form of the nucleotide-binding oligomerization domain containing 2 protein (NOD2). Normally, NOD2 is involved in triggering an immune response to foreign bacteria in the gut. The article's authors hypothesize that the mutant form of NOD2 would cause Crohn's disease by changing the sensitivity of the gut's bacteria response, either making it too sensitive or insensitive.
The authors go on to note that other variations have been implicated in Crohn's disease. Therefore it is likely that multiple genetic and environmental factors are involved in the disease. Despite not being a complete explanation, the identification of mutant NOD2 in Crohn's disease is an important step forward.
To read the full article click HERE
Dr. Hugot and his team tested the DNA of patients suffering from Crohn's disease as well as that of their family members for differences when compared to normal individuals. The change, or variation, most closely associated with the disease was then investigated. It was found that this variation resulted in a mutant form of the nucleotide-binding oligomerization domain containing 2 protein (NOD2). Normally, NOD2 is involved in triggering an immune response to foreign bacteria in the gut. The article's authors hypothesize that the mutant form of NOD2 would cause Crohn's disease by changing the sensitivity of the gut's bacteria response, either making it too sensitive or insensitive.
The authors go on to note that other variations have been implicated in Crohn's disease. Therefore it is likely that multiple genetic and environmental factors are involved in the disease. Despite not being a complete explanation, the identification of mutant NOD2 in Crohn's disease is an important step forward.
To read the full article click HERE
[1] Hugot, Jean-Pierre. "Association
of NOD2 Leucine-rich Repeat Variants with Susceptibility to Crohn's
Disease." Nature 411 (2001): 599-603.