MRI scans, APOE4, and Alzheimer Disease

So a break from that PTEN that I haven't gotten to yet, to comment briefly on APOE4 in Alzheimer Disease. I found this research from Washington University in St. Louis that uses functional MRI to image people with an APOE4 mutation that do not have plaque formation. APOE4 increases the risk of Alzheimer disease dramatically, but even so, not everyone gets it. http://news.wustl.edu/news/Pages/21633.aspx

this is the link. Interesting that the area that is most affected by decrease is the right temporal lobe. I have to review my exact neuroanatomy, but seizures in the right temporal lobe are associated with religious visions. Would then increased religious activity act to prevent Alzheimer disease? Is there a behavioral phenotype to Alzheimer disease?

My mother, one of the most religious people I know, and self-sacrificing people I know, had a CT scan of her head shortly before she died. There wasn't even the "normal" decay of aging--she had the brain of a much younger person. Maybe I should volunteer our family for study....

PTEN tidbit

PTEN is the gene associated with Cowden syndrome, a cancer risk syndrome, associated with colonic polyps, increased head size (macrocephaly), and specifically breast cancer. It has been thought that it was not associated with an increased risk of colon cancer. A study by the Cleveland Clinic, published in the December issue of Gastroenterology, showed an association of increased risk of breast, endometrial, and thyroid cancer most closely associated with the increased large head size. However, their sample had nearly 75% of patients with a large head, as opposed to others which have found an incidence of closer to 25% percent, so there may be an ascertainment bias.

Disclaimer: I got this information through an online journal watch, and don't have access to the full article at this point. Hopefully will be where I can again soon. I do have a certain trust that this journal watch newsletter is well reviewed, so that the studies reported are well conducted. But there is nothing like reading it for yourself.

Also there was an association with significant colonic polyps, which went on to form early colorectal cancer. The researchers suggested that patients with a PTEN mutation should have yearly cancer screenings as early as age 30. Maybe head size should be an adult vital sign, not just a pediatric one, at least in people with a family history of cancer; extremes may be significant.

Why is PTEN related to psychological maturity? Because some mutations can also result in a syndrome called BRR, and a couple of other names, including one with my mentor, Zonana(so I like that one the best.) Eventually, we will get rid of the names after the researchers anyway. Probably before I get my syndrome with my friend Boomer, so we could call it Boomer Pant syndrome. Ah well.

Back to BRR: in this syndrome it is associated with a big head, mental retardation, and spots on the penis, hence it is mostly seen in men. Those spots are easily recognized by a trained geneticist, and mental retardation is more common in men because of other genetic factors. So is there also a behavioral phenotype to other PTEN mutations? That is what I will be researching and reporting on next.

Do we have norms of head size for all ethnic groups? African-American may have larger or smaller norms (ee--that might depend on tribe if you are in Africa...), American Indian likewise. Asians might have smaller heads, being over all smaller people. I know that there are some ethnic charts; just keep it in mind when doing the measurements. Size does have to do with brain development, but other factors are more specific--mental retardation can occur with both micro and macrocephaly and with a normal size head.

Into each life some rain must come...

This blog is to document my interest in brain growth after birth--what factors support it? Which don't? Why do we get degeneration?

I have done research in neural stem cells in Alzheimer disease, the role of GHB (gamma hydroxybutyrate)in sleep, and in sleep disorders in Smith-Magenis syndrome. I have been a consultant at an eating disorders residential facility. I have worked in chronic pain and I have been a family physician for a number of years. I also have training in genetics. I am a very good clinical morphologist; I would like to become a better scientific morphologist and developmental biologist. So this is one way. I am going to research specific topics and put up my research--hopefully briefly.

The first will be PTEN and its role in brain malformations.