100 Words for Sunday, July 15, 2012

I understand; my life is surrounded by Alzheimer’s disease, from the memory care center to the groups I lead and attend, to the stories that inevitably come my way. But I also meet the disease in films I attend unknowingly like Separation and today in a book chosen at random from the literary fiction section at the Half-Price Book Store. Beginning with ‘A’, I find a missed Allende novel and a trilogy by Marge Anton, based on the lives of each of Rashi’s daughters. Why does the author describe the grandmother in the eleventh century with symptoms of Alzheimer’s disease?

There is much excitement in the scientific community this week due to the discovery that there is a gene that causes Alzheimer's disease by building up a protein that forms beta amyloid in the brain. They also found a protective gene mutation, which in some people protects them from ever getting the disease.The discovery of the protective gene mutation, a product of the revolution that has taken place in genetics, arose when researchers scanned the entire DNA of 1,795 people who live in Iceland.

. .  About 1 in 100 had a mutation in the gene for a large protein that is sliced to form beta amyloid. Then the investigators studied Icelanders who had been given an Alzheimer’s diagnosis, and compared their DNA with a control group of people 85 and older. Those with the mutation appeared to be protected from Alzheimer’s disease.
Many questions remain, of course.Most people do not have the protective gene mutation, but as common as Alzheimer’s is, most people do not get it. It is not clear why. And most who develop Alzheimer’s do not have one of the rare gene mutations that cause it. The reasons for their disease are unclear.

The investigators, led by Dr. Kari Stefansson, chief executive at DeCode Genetics, an Icelandic company, looked at genomes of North Americans and found the gene mutation in only about 1 in 10,000 people. That indicates, Dr. Stefansson said, that the mutation arose relatively recently in Scandinavia. "Recently" in genetic mutation time is still a long, long time ago.
And the scientists have a long, long way to go too, but it is good to see they are working on it and are not concentrating on one idea only, but testing several hypotheses. Most middle aged people are concerned about developing Alzheimer's themselves, but  the research is also showing that preventive measures may have to be taken in youth.