Navigation Links
Gathering the clues to rare gene variants contributing to schizophrenia
Date:2/20/2014

Philadelphia, PA, February 20, 2014 Schizophrenia has long been known to be highly heritable and is present in approximately 1% of the population. Researchers have been following two paths in their pursuit of identifying schizophrenia risk genes.

Initially, they studied common gene variants that, individually, only increase the risk for schizophrenia by a few percent, perhaps increasing the likelihood of developing schizophrenia from a 10 out of a 1000 chance to an 11 or 12 out of a 1000 chance.

More recently, research has identified gene variants that are rare in the population but, when present, more substantially increase the risk for developing schizophrenia. For example, in the current issue of Biological Psychiatry, a large collaborating group of international scientists, led by Dr. Jennifer Mulle, an Assistant Professor at Emory, report a 1.4 megabase duplication on chromosome 7 (7q11.23) that increases the risk for schizophrenia over 10 times, i.e., to 100 out of a 1000 chance (10%).

"We also found it interesting that three different disorders (schizophrenia, autism, and intellectual development) that strike at different times and present in different ways, have genetic links to this same region on chromosome 7," commented Mulle. "Our findings support the notion of a neuro-developmental link between these disorders."

In this same issue, Dr. George Kirov at Cardiff University and colleagues scanned the genome for copy number gene variants, i.e., where abnormal numbers of gene copies exist. They studied 70 of these variants, all previously implicated in schizophrenia and/or early-onset developmental disorders, such as developmental delay, intellectual deficit and autism spectrum disorders (DD/ID/ASD). They then compared the risk for carriers of these variants to develop one or more of these disorders, i.e. their genetic penetrance.

"The result might be unexpected for many: the penetrance for schizophrenia is several times lower than for the group of DD/ID/ASD. The total penetrance for any of these disorders is quite high, ranging from 10% for duplications at 16p13.11 to nearly 100% for the velocardiofacial syndrome region on chromosome 22. These findings will have implications for genetic counselling of carriers," said Kirov.

"It seems that we are at a critical point in the genetics of schizophrenia the identification of rare gene variants that substantially increase the risk for schizophrenia," said Dr. John Krystal, Editor of Biological Psychiatry. "However, we have a very limited understanding of how these genes alter brain development to produce schizophrenia and other disorders. This knowledge would seem to hold clues about mechanisms of prevention and treatment."

In addition, scientists do not yet understand why the genetics of schizophrenia is not tightly aligned with the symptoms of schizophrenia. In other words, gene variants that increase the risk for schizophrenia increase the risk for other disorders, such as developmental delay, autism, and bipolar disorder.

"The failure of our genome to follow DSM-V is not simply a shortcoming of our diagnostic manual, rather it is yet another reminder that there are fundamental aspects of the biology of psychiatric disorders that we do not understand," added Krystal.


'/>"/>

Contact: Rhiannon Bugno
Biol.Psych@utsouthwestern.edu
214-648-0880
Elsevier
Source:Eurekalert

Related biology news :

1. Robotic cats, a kitten mummy and a major UK vet gathering
2. Gathering information about food is not top priority for individuals with high metabolisms
3. Researchers look to relatives for clues in quest to develop sources of bioenergy
4. Relative reference: Foxtail millet offers clues for assembling the switchgrass genome
5. Higher pain tolerance in athletes may hold clues for pain management
6. Clues to nervous system evolution found in nerve-less sponge
7. Preserved frogs hold clues to deadly pathogen
8. Remote Siberian lake holds clues to Arctic -- and Antarctic -- climate change
9. Highlighting molecular clues to the link between childhood maltreatment and later suicide
10. Hunting for autisms chemical clues
11. Salt cress genome yields new clues to salt tolerance
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:11/29/2016)... -- BioDirection, a privately held medical device company developing ... of concussion and other traumatic brain injury (TBI), announced ... with the U.S. Food and Drug Administration (FDA) to ... the meeting company representatives reviewed plans for clinical development ... of a planned pilot trial. "We ...
(Date:11/24/2016)... Cercacor today introduced Ember TM Sport ... non-invasively measure hemoglobin, Oxygen Content, Oxygen Saturation, Perfusion ... in approximately 30 seconds. Smaller than a smartphone, using ... to key data about their bodies to help monitor ... Hemoglobin carries oxygen to muscles. When hemoglobin ...
(Date:11/19/2016)... 2016 Securus Technologies, a leading provider of ... investigation, corrections and monitoring, announced today that it has ... have an independent technology judge determine who has the ... tech/sophisticated telephone calling platform, and the best customer service. ... most of what we do – which clearly is ...
Breaking Biology News(10 mins):
(Date:12/2/2016)... ... December 01, 2016 , ... ... DNA microarray comparative genomic hybridization (array CGH) for HER2 genomic subtyping in ... molecular test results from tumors with previously documented positive, negative, and equivocal ...
(Date:12/2/2016)... ... 01, 2016 , ... The Conference Forum has announced that the 3rd annual ... place on February 1-3, 2017 at the Roosevelt Hotel in New York City. Led ... a unique 360-degree approach, which addresses the most up-to-date information regarding business aspects, clinical ...
(Date:12/2/2016)... ... December 02, 2016 , ... ... dedicated to collaboratively developing improved chemistry, manufacturing and control technologies for the ... UHPLC, with robust, probe-based sampling. , Online liquid chromatography analysis is ...
(Date:12/2/2016)... , December 2, 2016 The ... 2021, growing at a CAGR of 7.3% during the forecast period ... hospitals and diagnostic laboratories segment accounted for the largest share of ... ... report on global immunohistochemistry (IHC) market spread across 225 pages, profiling ...
Breaking Biology Technology: