Most genetic mutations found in medical research are bad – they increase risk of some condition – or at best offer trade-offs. Today’s issue of Science had a fascinating paper about a genetic mutation that seems to prevent people from developing Alzheimer’s Disease. The study was done by a company in Iceland called DeCode Genetics. Scientists there found the mutation by combing through the DNA of 1,795 Icelanders. The beauty of working with this sample is that people in Iceland also have very complete medical records and genealogies, so the researchers can compare health status, genes and patterns of inheritance.
What they found was that about one in 10,000 people carry this protective mutation – a spelling error in a gene that’s involved in the production of a protein called beta amyloid. Other mutations in that same gene can lead to a form of early onset Alzheimer’s disease that runs in families.
Greg Petsko, a biologists at Brandeis University, said there were a couple of points that the news reports didn’t make. One was that people with this protective mutation still had about half of the normal amount of beta amyloid. Knowing that helps those developing drugs by showing how much of a reduction would protect people from the disease. Before this finding, they didn’t know whether they’d need to get rid of 90 percent, or perhaps 99 percent of the beta amyloid do make a difference.
A reader noted on Monday's column that he or she hadn't hadn’t heard about CO2 from burning coal as a factor in the great Permian die-off:
I have to say that it is amazing how politics leads to reporters saying things like "scientists almost unanimously agree" comments. Scientists are not a political committee voting on a position or at least they weren't until global warming. Wither the facts support or they don't. The truth is a majority of scientific reports now support the theory that a vast volcanic eruption in India destroyed the environment world wide and the asteroid simply killed off the last surviving dinos. The Permian extinction was caused by the Siberian Trapps volcanic eruption that covered most of Siberia in thousands of feet of lava. Any coal fires that existed were meaningless. Global warming due to CO2 was an ant hill compared to the Mt Everest of the volcanic eruptions. That we know and this is the first I ever heard of coal fires at that time.
Hmm. I'm not sure what's wrong with reporting a scientific consensus where it exists. There are informed people who disagree with the asteroid idea, but they are in the minority.
It didn’t make sense from the get-go. A group of researchers claimed last December that they’d discovered an arsenic-based life form. They made a bunch of noise about a “shadow biosphere” that might have sprung from a separate origin of life. There was also a bunch of hand-waving about how this also had something to do with life on other planets. And someone said it could lead to new fertilizer.
It was one of those annoying press conferences in which the scientist spent all her time telling the world how important her finding was and no time explaining what the evidence was to back the claim.
Well, the only part that’s holding together now is the fact that there was enough BS dished out to fertilize the whole Midwest. Now scientists have also shot down the scientific claim that the organisms can exist without phosphorus and that they make special DNA that substitute arsenic for phosphorus. It was published online in Science, the same journal that published the initial findings.
F.F. Higgs wants to take on some reader questions about the Higgs Boson:
Higgs: Thanks for all the interesting comments on my last post. I’d like to clarify a couple of points. One reader took me to task for not pointing that Morgan Freeman said on TV that the Higgs is the dark matter. Well, if Morgan Freeman said so on TV it must be true - not.
The Higgs particle is definitely not the dark matter. Dark matter is something astronomers discovered because it pulls things around through its gravitational tug. Whole galaxies are dragged around the sky by the invisible tide of dark matter.
Here's my evolution column for this week. It will also appear in Monday's Philadelphia Inquirer:
Like the economy, evolution is not so much a progression as a series of crashes and recoveries. Periodically the Earth undergoes some assault or internal spasm that shakes off some 70 to 90 percent of all species.
Since the dawn of complex life some 600 million years ago, the Earth has suffered five such “mass extinctions,” followed by a recovery in which some of the winners spread out into the niches left by the losers.
Hi. Higgs here. Whether I won my bet or not, I’m happy for the physicists, even if the Higgs particle has acquired has the most annoying nickname ever to be given to a scientific idea. Every time I hear the term “God Particle” I bring up a hairball.
It's just plain pompous, whether one believes in God or not. It's also not descriptive or helpful.
And it's confusing. When people say the Higgs particle gives other particles their masses, it suggests that particles need some outside entity to give them mass. So what, then, gives the Higgs its mass? The situation is quite analogous to the proposition that God created everything in the universe, which implies that things can't exist without a creator and then begs the question of who or what created God.
F.F. Higgs the cat placed a bet about his namesake particle. Has he won or lost?
Higgs: I think I might have lost my bet after all. I said the physicists would announce that they’d discovered the Higgs particle today, and they sort of did, but not quite. The problem here is that the humans are not behaving as I would have predicted. And this is as it always has been. It’s easier to predict the behavior of sub-atomic particles than it is to forecast the behavior of human beings.
For the record books, today’s announcement is likely to represent the culmination of many years of work and billions of dollars. That’s what it takes to create the extreme conditions necessary to coax this particle called the Higgs boson to materialize. The experiment in question is called the Large Hadron Collider – a 17-mile ring-shaped device that accelerates particles and smashes them together. It’s located at a European lab called CERN.
Hi. Higgs here. Last week I placed a bet that physicists were going to announce the discovery of the Higgs Boson on July 4. I’m worried it’s going to be impossible to tell if I won my bet or not because the physicists are getting all waffly about whether they’re going to announce a discovery or just an almost discovery or a non-discovery that everyone is going to consider a discovery. IMHO they should keep quiet until they have something a little more concrete, but apparently they can’t help themselves.
It looks like it might be a discovery and not a discovery at the same time – much like the situation Schrödinger's dog – that thought experiment in which the physicist puts his dog in a box and it becomes a superposition of a live dog and a dead dog. I wonder if this means I win and lose at the same time and get a superposition of a treat and not a treat.
BTW, I don’t care much for the term God particle. It really doesn’t have much to do with God. For one thing, this particle apparently really exists. ; ) Okay, time to return to my slumbers. Thanks for letting me express my views – Higgs.
Read the latest on the Higgs search here.