2014年2月7日星期五

Latest Science News -- ScienceDaily: Gender influences symptoms of genetic disorder NF1

Latest Science News -- ScienceDaily

Breaking science news and articles on global warming, extrasolar planets, stem cells, bird flu, autism, nanotechnology, dinosaurs, evolution -- the latest discoveries in astronomy, anthropology, biology, chemistry, climate and environment, computers, engineering, health and medicine, math, physics, psychology, technology, and more -- from the world's leading universities and research organizations.

Gender influences symptoms of genetic disorder NF1
http://feeds.sciencedaily.com/~r/sciencedaily/~3/5sQ0nu4aJzc/140207094056.htm
Feb 7th 2014, 14:40

A genetic disorder that affects about 1 in every 2,500 births can cause a bewildering array of clinical problems, including brain tumors, impaired vision, learning disabilities, behavioral problems, heart defects and bone deformities. The symptoms and their severity vary among patients affected by this condition, known as neurofibromatosis type 1 (NF1).
Now, researchers at Washington University School of Medicine in St. Louis have identified a patient's gender as a clear and simple guidepost to help health-care providers anticipate some of the effects of NF1. The scientists report that girls with NF1 are at greater risk of vision loss from brain tumors. They also identified gender-linked differences in male mice that may help explain why boys with NF1 are more vulnerable to learning disabilities.
"This information will help us adjust our strategies for predicting the potential outcomes in patients with NF1 and recommending appropriate treatments," said David H. Gutmann, MD, PhD, the Donald O. Schnuck Family Professor of Neurology, who treats NF1 patients at St. Louis Children's Hospital.
The findings appear online in the Annals of Neurology.
Kelly Diggs-Andrews, PhD, a postdoctoral research associate in Gutmann's laboratory, reviewed NF1 patient data collected at the Washington University Neurofibromatosis (NF) Center. In her initial assessment, Diggs-Andrews found that the number of boys and girls was almost equal in a group of nearly 100 NF1 patients who had developed brain tumors known as optic gliomas. But vision loss occurred three times more often in girls with these tumors.
With help from David Wozniak, PhD, research professor of psychiatry, the scientists looked for an explanation in Nf1 mice (which, like NF1 patients, have a mutation in their Nf1 gene). They found that more nerve cells died in the eyes of female mice, and they linked the increased cell death to low levels of cyclic AMP, a chemical messenger that plays important roles in nerve function and health in the brain. In addition, Wozniak discovered that only female Nf1 mice had reduced vision, paralleling what was observed in children with NF1.
Two previous studies have shown that boys with NF1 are at higher risk of learning disorders than girls, including spatial learning and memory problems. To look for the causes of this gender-related difference, the scientists first confirmed that Nf1 mice had learning problems by testing the ability of the mice to find a hidden platform after training. After multiple trials, female Nf1 mice quickly found the hidden platform. In striking contrast, the male Nf1 mice did not, revealing that they had deficits in spatial learning and memory.
When the researchers examined the brain regions involved in learning and memory in the Nf1 mice, they identified biochemical abnormalities in the males but not in the females.
"We're currently working to determine whether differences in the sex hormones are responsible for these abnormalities in vision and memory," Gutmann said. "We're talking about a disorder in young kids and in mice, where we normally would not expect sex hormones to play a major role, but we can't rule them out yet."
If hormones are responsible for these gender-linked distinctions in NF1, treatments that block hormonal function may be an option for use in patients with NF1, Gutmann added.
"Moreover, these studies identify sex as one important factor that helps to predict clinical outcomes, such as vision loss and problems in cognitive function, in children with NF1," Gutmann said. "Further understanding of the interplay between sex and NF1 may change the way we manage individuals with this common brain tumor predisposition syndrome."

Story Source:
The above story is based on materials provided by Washington University School of Medicine. The original article was written by Michael C. Purdy. Note: Materials may be edited for content and length.
This entry passed through the Full-Text RSS service — if this is your content and you're reading it on someone else's site, please read the FAQ at fivefilters.org/content-only/faq.php#publishers.



You are receiving this email because you subscribed to this feed at https://blogtrottr.com

If you no longer wish to receive these emails, you can unsubscribe here:
https://blogtrottr.com/unsubscribe/cz0/tSbHWJ

没有评论:

发表评论

博客归档