"Protein Linked With Down Syndrome May Help Treat Breast Cancer"

Something I read a while back which I've read before. Very interesting, indeed.

Protein linked with Down Syndrome may help treat breast cancer

Submitted by Mohit Joshi on Tue, 02/05/2008 - 07:06.

Washington, Feb 5: Researchers at the Texas A&M University College of Veterinary Medicine & Biomedical Sciences have found that a protein long suspected to play a role in Down Syndrome might also contribute to treating breast cancer.

It is already known that Down Syndrome is caused when an individual has an extra copy of the 21st chromosome, giving them a total of three instead of the normal chromosome pair.

And now with advancements in medical care, people with Down Syndrome are living longer and healthier lives.

Along with this improvement came the observation that individuals with Down Syndrome have a significant decrease in risk for several types of tumours.

The most surprising observation is that women with Down Syndrome are 10-25 times less likely to develop breast cancer.

Scientists believe that this effect is due to the presence of one or more ‘tumour suppressor’ genes on chromosome 21. However, the identity of such genes has not been known, until now.

“Years of research into the genetics of Down Syndrome have helped us to discover a very important gene on chromosome 21,” said Dr. Weston Porter, associate professor in the Veterinary Integrative Biosciences Department.

“This gene, called Single-minded 2 or SIM2 is thought to play an important role in Down Syndrome by regulating neuron growth in the developing brain. Based on its developmental role, we hypothesized that SIM2 may also be involved in breast cancer, which is essentially a disease of uncontrolled growth,” he added.

For past five years, Porter and his colleagues have been using human breast cells and mouse models to validate this hypothesis, and what they have found they consider it very promising.

SIM2 is lost or suppressed in a majority of human breast tumours, and if the gene is deleted, it triggers rapid tumour growth in mice.

However, the process by which SIM2 suppresses breast cancer is complex and not fully understood.

This same protein, which might hold so much promise for breast cancer treatment, is also thought to contribute to the negative effects of Down Syndrome.

“As we move forward, it will be important for us to understand the circuit of SIM2 and how it is turned on and off. In light of the available data on breast cancer incidence in the Down Syndrome population and our experimental data, knowing how to turn SIM2 expression on and off and identification of down-stream targets should have great therapeutic value,” Porter said.

Although the study is in its early stages, it still represents a promising weapon in the fight against breast cancer as it sheds light on a previously unknown target for which to shoot.

The study is published in the journals Molecular and Cellular Biology and Carcinogenesis. (ANI)

New Research Offers Treatment For Down Syndrome!

Similar to the work that they are doing at Stanford, more success for Down Syndrome! Here is an article that came out yesterday!


DENVER (Aug. 20, 2007) - Researchers at the University of Colorado at Denver and
Health Sciences Center (UCDHSC) may have found a way to reverse the learning deficit
associated with Down syndrome. The findings could potentially lead to a new therapy to
increase the learning capacity of children and adults born with the genetic disorder. The
findings are published in the Aug. 15 advance online edition of
Neuropsychopharmacology, a publication of the Nature Publishing Group.

The UCDHSC research tested the effectiveness of memantine, an FDA-approved drug
already being used to treat patients with Alzheimer's disease. When the drug was used on
mice with an animal model of Down syndrome, researchers found the mice to have better
memory retention. This authors note this "is the first instance in which acute injection of a
drug agent has improved the behavioral performance of Down syndrome mice in a test of
learning and memory," and that the findings are promising from a therapeutical
perspective.

The study was conducted using a chamber to measure the learning retention of mice with
Down syndrome against healthy control mice. Once inside the chamber, the mice were
exposed to a brief and mild electric stimulus carefully designed to produce an unpleasant
feeling without causing harm.

"When run through this type of experiment, typical control mice generally are able to
associate being in the chamber with the unpleasant stimulus," said Alberto Costa, MD,
PhD, associate professor of medicine and neuroscience at UCDHSC's School of Medicine
and lead author of the study. "After being exposed to the stimulus, the control mice would
experience freezing behavior when they were put back into the chamber 24 hours later.
The mice with Down syndrome were not able to recall the stimulus at all. Instead, they
would stroll around the chamber the same way as mice that had never been exposed to it."

After administering just two doses of the drug memantine, the study found that the mice
with Down syndrome displayed a statistically indistinguishable amount of freezing
behavior, much like the behavior observed in the control mice.

The first dose of memantine was given 15 minutes before the mice were exposed to the
stimulus for the first time and the second dose was given to the mice 24 hours later, 15
minutes before they were put back in the chamber.

"In a separate set of experiments, the research team found that the most important dose
of memantine seems to be the one taken before the animals are first exposed to the
stimulus inside the chamber, which argues for a more important role of the drug on
memory formation, as opposed to memory retrieval," said Costa.

Costa, also the parent of a 12-year-old child with Down syndrome, hopes to receive
institutional review board approval to lead a team of physicians and psychologists in
Denver in a pilot, placebo-controlled, double-blind clinical trial in which they will attempt
to translate the knowledge acquired from this research into a potential therapy for the
cognitive deficits associated with Down syndrome.

"After 11 years working in the field of Down syndrome, I feel fortunate to finally be in a
position of being able to use scientific research to try to help improve the quality of the
life of people who share the same genetic disorder as my daughter," he said.

This Down syndrome research was funded by the Anna & John J. Sie Foundation, the
Coleman Institute for Developmental Disabilities, the Mile High Down Syndrome
Association, the Colorado Springs Down Syndrome Association, and the National Institutes
of Health.