Nav: Home

Researchers uncover new potential genetic links to common brain disorder

September 08, 2016

An international group of researchers has for the first time identified a set of 30 inherited recessive genes that play a role in intellectual disability (ID), a neurodevelopmental disorder that, according to the Centers for Disease Control (CDC), affects as many as 213 million people around the world.

The research team was led in in part by Principal Investigator Saima Riazuddin, PhD, MPH, MBA Professor of Otorhinolaryngology Head & Neck Surgery and Professor of Biochemistry & Molecular Biology at the University of Maryland School of Medicine (UM SOM). Other principal researchers included Hans van Bokhoven, PhD, of the Department of Human Genetics at Radboud University Medical Center in the Netherlands, and Sheikh Riazuddin, PhD, of the Allama Iqbal Medical College, the University of Health Sciences in Pakistan.

Intellectual disability, or ID (previously known as mental retardation), becomes apparent in children before the age of 18. The disorder, which is measured by an intelligence quotient below 70, significantly limits an individual's intellectual ability and practical skills. ID also can be a significant burden to families, society and the healthcare system. According to CDC, the lifetime cost for caring for a person with an intellectual disability is over $1 million. Currently, about 1-3 percent of the world's population possess some form of ID. While about half of all ID cases can be linked to environmental causes like poor nutrition, unknown genetic factors, such as gene mutations, are responsible for the remaining 50 percent.

The new study, which was published recently in the online journal Molecular Psychiatry, presents the outcomes of a five-year investigation that was conducted over three continents. In order to identify potential genetic causes for ID, investigators assembled a test group of 121 families in rural Pakistan, in which there was a higher incidence of ID and consanguineous marriages (marriages between blood relations). More than 15,000 DNA samples were collected, which were analyzed both in the Netherlands and at UM SOM's Institute of Genomic Sciences (IGS), using next-generation genetic sequencing.

From an initial pool of 2,000 possible genes, the study has categorized 30 novel candidate genes possessing a strong potential for causing ID--and possibly other brain disorders as well. In addition, this information now can be applied to DNA screenings in determining the possibility of a couple producing an ID child.

"The implications are enormous," said Dr. Riazuddin. "The next phase of our study is to come up with therapeutic options and personalized protocols that could help patients improve their intellectual function."

"This study by Dr. Riazuddin and her colleagues marks a major breakthrough in uncovering new solutions to such crippling brain disorders as ID," said UM SOM Dean E. Albert Reece, MD, PhD, MBA, who is also Vice President of Medical Affairs at the University of Maryland and the John Z. and Akiko Bowers Distinguished Professor at UM SOM. "Their innovative work now has opened the door to other potential discoveries that will change the way we treat such disabilities in the future."
About the University of Maryland School of Medicine

The University of Maryland School of Medicine was chartered in 1807 and is the first public medical school in the United States and continues today as an innovative leader in accelerating innovation and discovery in medicine. The School of Medicine is the founding school of the University of Maryland and is an integral part of the 11-campus University System of Maryland. Located on the University of Maryland's Baltimore campus, the School of Medicine works closely with the University of Maryland Medical Center and Medical System to provide a research-intensive, academic and clinically based education. With 43 academic departments, centers and institutes, and a faculty of more than 3,000 physicians and research scientists and more than $400 million in extramural funding, the School is regarded as one of the leading biomedical research institutions in the U.S. with top-tier faculty and programs in cancer, brain science, surgery and transplantation, trauma and emergency medicine, vaccine development and human genomics, among other centers of excellence. The School is not only concerned with the health of the citizens of Maryland and the nation, but also has a global presence, with research and treatment facilities in more than 35 countries around the world.

University of Maryland School of Medicine

Related Intellectual Disability Articles:

Scientists unravel how protein impacts intellectual disability
Scientists from the Florida campus of The Scripps Research Institute (TSRI) have shown that a protein helps balance nerve cell communication.
Study links 26 novel genes to intellectual disability
Researchers at Canada's Centre for Addiction and Mental Health (CAMH) and Queen's University have identified 26 new genes linked to intellectual disability.
Postpartum hospital admissions for women with intellectual and developmental disabilities
A new study has shown that women with intellectual and developmental disabilities had nearly twice the risk of a hospital or emergency department visit with the first few weeks after giving birth compared to women without these disabilities.
OTUD6B gene mutations cause intellectual and physical disability
An international team of researchers from institutions around the world, including Baylor College of Medicine, has discovered that mutations of the OTUD6B gene result in a spectrum of physical and intellectual deficits.
For a modest personality trait, 'intellectual humility' packs a punch
'Intellectual humility' has been something of a wallflower among personality traits, receiving far less attention than such brash qualities as egotism or hostility.
Low-carb diet alleviates inherited form of intellectual disability in mice
Experimenting on mice with a genetic change similar to that found in people with a rare inherited disease called Kabuki syndrome, Johns Hopkins scientists report that a very low-carbohydrate diet can 'open up' DNA and improve mental function.
New intellectual disability syndrome caused by genetic damage to single gene
Scientists at the Wellcome Trust Sanger Institute and Max Planck Institute for Psycholinguistics have found a gene responsible for an intellectual disability disorder and proven how it works.
Autism with intellectual disability linked to mother's immune dysfunction during pregnancy
Pregnant women with higher levels of inflammatory cytokines and chemokines, proteins that control communication between cells of the immune system, may be at significantly greater risk of having a child with autism combined with intellectual disability, researchers with the UC Davis MIND Institute have found.
Antipsychotic prescribing trends in youths with autism and intellectual disability
About one in 10 youths treated with an antipsychotic are diagnosed with autism spectrum disorder or intellectual disability.
DNA sequencing enables treatment for some types of intellectual disability
A study published May 25 in the New England Journal of Medicine is one of the first to show the life-changing benefits of genome-wide sequencing for children with certain kinds of intellectual disability.

Related Intellectual Disability Reading:

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Do animals grieve? Do they have language or consciousness? For a long time, scientists resisted the urge to look for human qualities in animals. This hour, TED speakers explore how that is changing. Guests include biological anthropologist Barbara King, dolphin researcher Denise Herzing, primatologist Frans de Waal, and ecologist Carl Safina.
Now Playing: Science for the People

#SB2 2019 Science Birthday Minisode: Mary Golda Ross
Our second annual Science Birthday is here, and this year we celebrate the wonderful Mary Golda Ross, born 9 August 1908. She died in 2008 at age 99, but left a lasting mark on the science of rocketry and space exploration as an early woman in engineering, and one of the first Native Americans in engineering. Join Rachelle and Bethany for this very special birthday minisode celebrating Mary and her achievements. Thanks to our Patreons who make this show possible! Read more about Mary G. Ross: Interview with Mary Ross on Lash Publications International, by Laurel Sheppard Meet Mary Golda...