Health and Medical News and Resources

General interest items edited by Janice Flahiff

[News release] Closer than ever to a personalized treatment solution for intellectual disability — ScienceDaily

Closer than ever to a personalized treatment solution for intellectual disability 

From the press release

JUPITER, FL – January 21, 2015 – Scientists from the Florida campus of The Scripps Research Institute (TSRI) have produced an approach that protects animal models against a type of genetic disruption that causes intellectual disability, including serious memory impairments and altered anxiety levels.

The findings, which focus on treating the effects of mutations to a gene known as Syngap1, have been published online ahead of print by the journal Biological Psychiatry.

“Our hope is that these studies will eventually lead to a therapy specifically designed for patients with psychiatric disorders caused by damagingSyngap1 mutations,” said Gavin Rumbaugh, a TSRI associate professor who led the study. “Our model shows that the early developmental period is the critical time to treat this type of genetic disorder.”

Damaging mutations in Syngap1 that reduce the number of functional proteins are one of the most common causes of sporadic intellectual disability and are associated with schizophrenia and autism spectrum disorder. Early estimates suggest that these non-inherited genetic mutations account for two to eight percent of these intellectual disability cases. Sporadic intellectual disability affects approximately one percent of the worldwide population, suggesting that tens of thousands of individuals with intellectual disability may carry damaging Syngap1 mutations without knowing it.

In the new study, the researchers examined the effect of damagingSyngap1 mutations during development and found that the mutations disrupt a critical period of neuronal growth—a period between the first and third postnatal weeks in mouse models. “We found that a certain type of cortical neuron grows too quickly in early development, which then leads to the premature formation of certain types of neural circuits,” said Research Associate Massimilano Aceti, first author of the study.

The researchers reasoned that this process might cause permanent errors in brain connectivity and that they might be able to head off these effects by enhancing the Syngap1 protein in the newborn mutant mice. Indeed, they found that a subset of neurons were misconnected in the adult mutant mice, suggesting that early growth of neurons can lead to life-long neural circuit connectivity problems. Then, using advanced genetic techniques to raise Syngap1 protein levels in newborn mutant mice, the researchers found this strategy completely protected the mice only when the approach was started before this critical developmental window opened.

As a result of these studies, Rumbaugh and his colleagues are now developing a drug-screening program to look for drug-like compounds that could restore levels of Syngap1 protein in defective neurons. They hope that, as personalized medicine advances, such a therapy could ultimately be tailored to patients based on their genotype.

In addition to Rumbaugh and Aceti, other authors of the study, “Syngap1 Haploinsufficiency Damages a Postnatal Critical Period of Pyramidal Cell Structural Maturation Linked to Cortical Circuit Assembly,” include Thomas K. Creson, Thomas Vaissiere, Camilo Rojas, Wen-Chin Huang, Ya-Xian Wang, Ronald S. Petralia, Damon T. Page and Courtney A. Miller of TSRI. For more information, seehttp://www.biologicalpsychiatryjournal.com/article/S0006-3223%2814%2900593-9/abstract

January 23, 2015 Posted by | Psychiatry | , , , , , , | Leave a comment

[Press release] Why Scientists Are Blaming Cilia for Human Disease – Scientific American

Why Scientists Are Blaming Cilia for Human Disease – Scientific American.

Hairlike structures on cells may play a role in a host of genetic disorders, including kidney degeneration, vision impairment and even some cancers

Hairlike cilia may be at the roots of of several genetic disorders.
Image Courtesy of StudyBlue.com

Scientists now believe that a number of genetic disorders, from polycystic kidney disease to some forms of retinal degeneration, can ultimately be traced back to cilia—bristly, hairlike structures that dot cell surfaces.

In a review article published in the December 1 BioScience, George B. Witman, a cellular biologist at the University of Massachusetts Medical School, highlighted the growing body of evidence that abnormal or absent cilia can cause a wide range of human disorders, dubbed “ciliopathies.”

“Kidney disease and blindness, multiple digits, shortened bones or extremities, obesity—all of these things, it turns out, are due to defects in cilia,” he says. Experts add that the discovery of a common thread between these disparate disorders may eventually help researchers develop gene-based therapies to combat those conditions.

At first blush, cilia seem relatively innocuous. As they beat back and forth outside the cell, coordinated brushes of so-called motile cilia regulate fluid flow nearby. But almost all human cells also have one primary, or nonmotile, cilium that functions more like a molecular antenna. The primary cilium is an internally dynamic structure, packed with proteins that detect and convey important messages to its cell about the local environment. “The signaling machinery is concentrated in the cilia,” Witman says. “All in this very tightly controlled, constrained space.”

December 12, 2014 Posted by | Medical and Health Research News | , , , , , , , , , , , | Leave a comment

Hormones, Elvis, and human emotion

Promotional photograph of Elvis Presley, taken...

Promotional photograph of Elvis Presley, taken in 1954. (Photo credit: Wikipedia)

From the 12 June 2012 EurekAlert

Shedding light on what makes people feel and act the way they do

(SALT LAKE CITY)—The velvety voice of Elvis Presley still makes hearts flutter—and in a new study with people who have the rare genetic disorder Williams syndrome, one of the King’s classics is among a group of songs that helped to cast light on part of the essence of being human: the mystery of emotion and human interaction.

In a study led by Julie R. Korenberg, Ph.D., M.D., University of Utah/USTAR professor, Circuits of the Brain and pediatrics, people with and without Williams syndrome (WS) listened to music in a trial to gauge emotional response through the release of oxytocin and arginine vasopressin (AVP), two hormones associated with emotion. The study, published June 12, 2012, in PLoS ONE, signals a paradigm shift both for understanding human emotional and behavioral systems and expediting the treatments of devastating illnesses such as WS, post-traumatic stress disorder, anxiety, and possibly even autism, according to Korenberg, senior author on the study and one of the world’s leading experts in genetics, brain, and behavior of WS.

“Our results could be very important for guiding the treatment of these disorders,” Korenberg says. “It could have enormous implications for personal the use of drugs to help people.”

The study also is the first to reveal new genes that control emotional responses and to show that AVP is involved in the response to music…

June 14, 2012 Posted by | Medical and Health Research News, Psychology | , , | Leave a comment

   

%d bloggers like this: