New Gene Associated with Increased Risk of Alzheimer's Disease


This week I read a very interesting article about research concerning Alzheimer's Disease. This article was particularly interesting to be because this disease runs in my family. The researchers have been comparing the genetic sequences of 2,269 patients with late onset Alzheimer's and 3,107 patients without the disease. They have found a specific gene called MTHFD1L that they believe is linked to late onset Alzheimer's. Patients with specific variations in the gene are almost two times as likely to have late onset Alzheimer's than those who don't. The purpose of this research is to better understand the onset of this disease as well as to show insight on how to improve treatments for the disease. This research also may be able to provide high risk patients for Alzheimer's with earlier knowledge of their situation. Overall, I think this article is clear and understandable and gives insight into the research being done with late-onset Alzheimer's Disease.


Ok. I want you to succeed. So I'm going to be critical and hold you standards that, maybe you think are not "fair." But I'm not interested in "fair," but, as I said, in your success.

1. Your summary seems to overstate the case for this gene. I guessed you might have when I read: They have found a specific gene called MTHFD1L that they believe is linked to late onset Alzheimer's. Please do not over-state your case. It is bad science journalism, and while sexy, causes more problems in the long run than it solves.

2. The gene is described as a potential influence because of it's role in regulating homocysteine. It raises the probability of getting Alzheimer's. But it is not "the gene." Which gets me to...

3. There is almost never a "the gene" for most genetic diseases, so keep that in mind when you read these articles. Which is not to say all are merely factorial. It is quite true that some genetic diseases are caused by "the gene," such as Huntington's disease. But most of these articles describe elevated-risk genes which are just factors and having them only increases your risk. And, often times, only in conjunction with other genetic factors.

4. You missed, in your summary, what is probably the most important aspect of the research purpose -- "This finding gives us unique insight into possible interactions between genetic and environmental risk factors that contribute to AD." Genes AND environmental factors in a dysfunctional harmony. Not "the gene."


The author of this post never said "the gene" in the way you implied. According to the author variant(s) of MTHFD1L were associated with increased risk of late onset Alzheimer's in the cohort. Please point to where the author of the post claimed that the gene in question was a smoking gun--even in the ScienceDaily article it's described as a "risk gene" and not THE gene that causes Alzheimer's.

As a summary of a summary of a scientific paper this post did fine by me. In the future a more journal club-esque approach in tackling the original paper would be preferable but perhaps outside the scope of the assignment.

I like the fact that you picked a topic of personal interest to you. It would be good if you could elaborate on the significance of the finding. What does the identification of a gene associated with a disease do for us?

Have you read the original article in PLoS Genetics? It's almost certainly a little denser than this news article, but it might be interesting to compare this summary with the original.

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This page contains a single entry by lars3425 published on September 24, 2010 10:56 AM.

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