HOME >> BIOLOGY >> NEWS
Researchers learn more about genetic mutation linked to autism

University of Iowa researchers have learned more about a genetic mutation that contributes to autism. The mutation occurred in sperm cells of a father, who does not have autism, but passed the condition on to two of his children.

The investigators now know more about how the mutation causes problems with a specific gene and are testing for additional mutations of the same gene in other people with autism. Thomas Wassink, M.D., associate professor of psychiatry in the UI Carver College of Medicine, is presenting the findings May 3 at the annual International Meeting for Autism Research in Seattle.

Earlier this year, UI researchers and collaborators were part of an international team that identified, among other findings, deletions in a gene called neurexin 1, which caused the two cases of autism in one family. The UI researchers and collaborators were Wassink; Val Sheffield, M.D., Ph.D., UI professor of pediatrics and a Howard Hughes Medical Investigator; Kacie Meyer, a graduate student in Wassink's laboratory; and former UI investigator Joseph Piven, M.D., now professor of psychiatry at the University of North Carolina (UNC) and director of the UNC Neurodevelopmental Disorders Research Center,

"Genes with the most compelling evidence of causing autism appear to be components of a specific kind of neuronal connection, or synapse, called the glutamate synapse. The gene neurexin 1 was the fourth of these genes to be identified, and it is a scientifically interesting mutation because it wasn't found in either of the parents, who do not have autism," Wassink said.

Instead, the mutation is a germline mosaic -- meaning the deletion occurred only in the father's sperm cells when he himself was in gestation. As result, the father did not have autism, but his two children, both daughters, inherited from him a chromosome that was missing a small piece of DNA that contained neurexin 1. The daughters now have autism.

Because o
'"/>

Contact: Becky Soglin
becky-soglin@uiowa.edu
319-335-6660
University of Iowa
3-May-2007


Page: 1 2

Related biology news :

1. Researchers find pathway that controls cell size and division
2. Researchers watch antibiotics, bacteria meet at atomic level
3. Researchers discover gene responsible for Restless Legs Syndrome
4. Researchers witness natural selection at work in dramatic comeback of male butterflies
5. Researchers discover human embryonic stem cells are the ultimate perpetual fuel cell
6. Researchers use new approach to predict protein function
7. Researchers probe risks, benefits of folic acid fortification
8. Researchers identify genetic mutation that may alter tumor cell proliferation
9. Researchers discover method for identifying how cancer evades the immune system
10. Researchers use adult stem cells to create soft tissue
11. Researchers find gene that spurs development of the epididymis

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:10/22/2019)... NEW ORLEANS (PRWEB) , ... October 21, 2019 , ... ... cancer with the launch of two, new navigated instruments. These devices are designed to ... lung cancer. These new tip-tracked tools will be launched at the annual American College ...
(Date:10/22/2019)... TORONTO (PRWEB) , ... October 21, 2019 , ... Join ... Ingen, MS, Director of Bioanalytical in a live session on Thursday, October ... bioanalysis CRO partner. , A good CRO partner should have expertise in method ...
(Date:10/22/2019)... , ... October 22, 2019 , ... ... the 71st Southeastern Regional Meeting of the American Chemical Society, ( SERMACS ) ... a variety of symposia topics covering analytical, biological, computational, inorganic, medicinal, organic, physical, ...
Breaking Biology News(10 mins):
(Date:10/22/2019)... , ... October 22, 2019 , ... nQ Medical, Inc. ... School’s 2019 Most Fundable Companies List which was announced at a showcase event yesterday ... million in annual revenue, strong business plans, and impressive near-term growth projections to be ...
(Date:10/22/2019)... N.J. (PRWEB) , ... October 22, 2019 , ... Catalent, ... Clinical Supply Services and Drug Product Technologies Integration, will participate in a panel session ... Conference (HPCLC), to be held at the Gwen Hotel, Chicago, on Oct. 28-30, 2019. ...
(Date:10/22/2019)... LOS ANGELES (PRWEB) , ... October 22, 2019 ... ... software provider, today announced integration of the Alertus Mass Notification System into its ... critical infrastructure to the Enplug platform, making it possible for users to leverage ...
(Date:10/22/2019)... ... , ... DermBiont, a clinical stage microbiome biotechnology company developing ... safety endpoints, with no application site reactions and no adverse events, in a ... tinea pedis (athlete’s foot). Additionally, the trial demonstrated a clinical response with improvement ...
Breaking Biology Technology:
Cached News: