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Significance of Alzheimer's gene far from clear

Alzheimer’s disease is not about to be cured, treated or detected more easily than it was last week. But you might guess otherwise from the publicity  showered on a newly discovered gene this week. By NBC's Robert Bazell

Alzheimer’s disease is not about to be cured, treated or detected more easily than it was last week. But you might guess otherwise from the publicity  showered on a newly discovered gene this week.

To be sure, the identification of the gene called SORL1 represents an important piece of basic research. But its significance for those afflicted with this horrible condition or their loved ones is far from clear.

It brings me to a question I have struggled with for my entire career reporting on science and medicine. When does a piece of research become newsworthy?

Every week thousands of reports of scientific and medical research appear in academic journals. But only a few make it into the news. Why?

First there is a hierarchy of journals. Most medical “news” comes from a handful of the hundreds of journals that publish all that research. The New England Journal of Medicine, the Journal of the American Medical Association (JAMA), Science, and a cluster of journals stemming from the British publication Nature get most of the attention. The recent Alzheimer’s paper appeared in the journal Nature Genetics.

These journals expend huge amounts of time and money to obtain publicity for a selected few of their articles every week. They send out press releases to news outlets, major and minor.  This includes access to the articles several days in advance of publication under an “embargo” wherein reporters agree not to report the information before a time specified by the journal.

For the SORL1 story the embargo time was January 14, 1 p.m. Eastern Standard time in the U.S.

When everyone has the same story at once, it seems important. For the journals, the process encourages coverage. That, in turn, elevates those journals to a more exalted status from scientists who want to see their research on TV or in the newspapers.

Then there are the universities, hospitals, government agencies and charitable organizations all fighting for coverage. The SORL1 research project involved three major research centers.  Each wants its name in the news because it is competing for business, government grants, charitable donations or all of the above. As a result, each sends out press releases heralding the discovery and facilitates interviews with the scientists involved.

With a disease like Alzheimer’s, everyone wants to demonstrate progress to encourage continued funding.

Why not so significant?
The process in the brain leading to the disintegration called Alzheimer’s is extraordinarily complex. Several press releases said that SORL1 was only the second gene to be associated with the most common form of Alzheimer’s — late-onset — that strikes people aged 70 and older.

However, other scientists have identified as many as 12 other genes that may be implicated.  Sometimes these results get confirmed. Other times they do not.

Alzheimer's can run in families. It's especially true when the disease strikes people in their 40s or 50s. The majority of cases that strike late in life are not genetic in the usual sense, although scientists are finding that when these genes mutate, they increase a person's risk for getting the disease.

The purpose of identifying a gene that plays a role in the disease is to find out how that gene does its damage and develop drugs to stop or slow the process. 

Even if the results about SORL 1 are confirmed, drug development would follow an unpredictable path that would take years. Several other gene discoveries have led to drugs that are much farther along in testing. A recent article in Business Week highlighted some of the more promising treatments.

Alzheimer’s already afflicts 4.5 million Americans. Because of the aging population, if nothing is done, it will destroy twice as many minds in 25 years. There is an enormous societal will to stop the disease.

But heralding one piece of basic research does not show that the problem is being solved — no matter how many people want it to be so.