Navigation Links
Gender influences symptoms of genetic disorder
Date:2/7/2014

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."


'/>"/>

Contact: Michael C. Purdy
314-286-0122
Washington University School of Medicine
Source:Eurekalert

Related medicine news :

1. UK review examines gender differences in COPD patients
2. Fenway Health Releases Transgender Awareness Week 2013 Infographic
3. Transgender patients have special needs in the ER
4. Considerable gender, racial and sexuality differences in attitudes toward bisexuality
5. GVSU study on gender: Who counts as a man and who counts as a woman
6. Discover How to Determine Baby Gender With the “Prince Or Princess” Book – Vkoolelite
7. Three Physicians Join Texas Children’s Urology Division and Bring Robotics, Gender Medicine and Research Expertise
8. New University of Michigan Study Discovers Obesity Causes Vary By Gender
9. Researcher awarded $1.8 million grant to study gender differences in antidepressant effects
10. A Gender Specific Hair Re-Growth Product "Provillus" Finally Released
11. Men, women lie about sex to match gender expectations
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/2/2016)... ... ... “Engineering Bubbles,” an oil painting submitted by Canadian radiology resident Dr. Kari ... the Annual Meeting in Los Angeles. The first annual art forum was a platform ... attendees. , “Through art I hope to educate people about radiology and its ...
(Date:5/2/2016)... ... ... Over $60 Billion is spent annually on products for our favorite furry ... site for Toys, Tots, Pets & More (TTPM) announced the 15 winners of the ... Metropolitan Pavilion in New York City. , Chosen from a field of hundreds of ...
(Date:5/2/2016)... ... May 02, 2016 , ... ... new Specialty Pharmacy Patient Satisfaction Award that will recognize specialty pharmacies for their ... from Zitter Health Insights’ Specialty Pharmacy Patient Satisfaction Survey compiled throughout 2016. Results ...
(Date:5/2/2016)... , ... May 02, 2016 , ... According to an ... one in four girls are sexually abused before the age of 18. Of those ... to tell her story and others. , In her new book, Lyah! Lyah! ...
(Date:5/2/2016)... ... May 02, 2016 , ... Consultative health care market research ... Callandrillo and Duane Reed, VP of business development of AJMC Strategic Solutions, will ... Group (PBIRG) General Meeting from May 15-17 at the Boca Raton Resort ...
Breaking Medicine News(10 mins):
(Date:4/27/2016)... TURIN, Italy , April 27, 2016 ... MR-guided linear accelerator (MR-linac) platform will be the focal ... annual meeting of the European Society for Radiotherapy & ... Elekta,s MR-linac integrates a state-of-the-art radiotherapy system and ... a physician to clearly see the patient,s anatomy in ...
(Date:4/27/2016)... April 27, 2016   Zillion Group ... health technology platform, which specializes in live video ... scalable digital products, Zillion enables companies to realize ... consumers to take control of their health. ... conferencing – including one-to-one, group and webcast scheduled ...
(Date:4/27/2016)... , April 27, 2016  Bayer Animal Health ... senior from the University of Florida College of ... Bayer Excellence in Communication Award (BECA). Brittany was ... were awarded a total of $70,000 in scholarship ... four years, Bayer has provided a total of ...
Breaking Medicine Technology: