Navigation Links
Altered Protein Structure was Found in Autism Patients

A research team led by scientists at the University of California , has discovered how particular genetic mutations affect the structure of protein complex implicated in autism . These proteins contribute to the developmental abnormalities found in children with autism.

By understanding the three-dimensional structure of the normal protein, researchers can now make predictions about how mutations in the gene affect the structure of the gene product, said first author Davide Comoletti, Ph.D., UCSD research associate at the Skaggs School of Pharmacy.

Autism spectrum disorders are developmental disabilities that cause impairments in social interaction and communication. Both children and adults with autism typically show difficulties in verbal and non-verbal communication, interpersonal relationships, and leisure or play activities.

Comoletti and colleagues studied the neuroligin family of proteins that are encoded by genes known to be mutated in certain patients with autism. The neuroligins, and their partner proteins, the neurexins, are involved in the junctions, or synapses, through which cells of the nervous system signal to one another and to non-neuronal tissues such as muscle. These structural studies on neuroligins and neurexins represent a major step toward defining the synaptic organization at the molecular level.

Normally, individual neuroligins are encoded to interact with specific neurexin partners. The two partners are members of distinct families of proteins involved in synaptic adhesions, imparting stickiness that enables them to associate so that synapses form and have the capacity for neurotransmission, said Palmer Taylor, Ph.D., Dean of the Skaggs School, Sandra & Monroe Trout Professor of Pharmacology, and co-principal investigator of the study, along with Jill Trewhella, Ph.D., of the University of Sydney, Australia and University of Utah.

Incorrect partnering that results when a mutant neuro ligin fails to properly align at synapses helps explain why the autism spectrum disorders are manifested in subtle behavioral abnormalities that are seen at an early age.

Abnormal synaptic development in nerve connections is likely to lead to cognitive deficits seen in patients with autism, said Taylor. He added that synapse formation and maintenance occurs early in development when the infant brain is still plastic and formative. Therefore, by understanding the structural mutations that affect neurotransmission during development, new leads into drug therapies may emerge.

We really dont know what causes autism, but this research represents a solid starting point, said Sarah Dunsmore, Ph.D., program director with the National Institute of General Medical Sciences, part of the National Institutes of Health, which partly supported the study. The work suggests that genetic mutations that alter the shape or folding of adhesion proteins in the nervous system influence their interactions. This is another example of how research on basic biological questions, such as the three-dimensional structures of proteins in the brain, can yield valuable medical insights.

Taylor and colleagues have been studying the structure and function of acetylcholinesterase a structurally related protein that mediates neurotransmission between nerves and between nerve and muscle for the past 30 years. They began studying the neuroligins because of the similarity in structure and amino acid sequence with acetylcholinesterase.


'"/>




Related medicine news :

1. Women With Anorexia Have Altered Brain Activity
2. Tooth Decay Bacteria Unaffected By Altered Biochemical Pathway
3. Cocaine Acts As Suppressant Not Stimulant In Genetically Altered Mice
4. Schizophrenia Complicates With Altered Receptor Activity
5. The Immune System May Be Altered By Certain Chemicals
6. Altered Sodium Channel Function Linked to Heart Failure
7. Gene-Altered Foods ? Still Not Sure
8. Gene-Altered Foods -Still Not Sure
9. Genetically Altered Cells Prevent Lethal Infections in Substituted Skin
10. Lean Protein Could Be Key to Obesity Drugs
11. Evidence Links Protein Damage to Neurodegenerative diseases like Parkinsons and Alzheimers
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:2/11/2016)... ... February 11, 2016 , ... Florida Hospital presents Heart Health Awareness ... St. Louis Blues at the Amalie Arena. The puck drops at 6:00pm, but fans ... the MEGA Heart, prior to the game. The MEGA Heart will be located on ...
(Date:2/11/2016)... ... 2016 , ... Hall Integrative Health and Chiropractic, PC which ... grand openings in March. All seven practices are set to start accepting patients ... diabetes possible? According to this 2011 CNN article it is possible: http://www.cnn.com/2011/HEALTH/01/28/reverse.diabetes/ ...
(Date:2/11/2016)... ... February 11, 2016 , ... ... clinical decision support technology, with highly adaptable algorithms, has been updated to help ... has signs and symptoms consistent with Zikas and a travel history to affected ...
(Date:2/11/2016)... , ... February 11, 2016 , ... ... of a master charity program created to assist the people of their local ... closely with nonprofit organizations and community leaders. Their hope is to bring awareness ...
(Date:2/11/2016)... Rock, AR (PRWEB) , ... February 11, 2016 , ... ... in their community by announcing a new fundraiser in support of a local boy ... also hopes the campaign will bring awareness to, and rally support for, all local ...
Breaking Medicine News(10 mins):
(Date:2/11/2016)... PORTLAND, Ore. , Feb. 11, 2016 ... is pleased to announce the acquisition of SolutionsRx, a ... rural access hospitals. Along with providing traditional contract pharmacy ... services to assist clients in navigating the complex 340B ... CEO of Wellpartner. --> James R. Love ...
(Date:2/11/2016)... , 11 de fevereiro de 2016 /PRNewswire/ ... de sua fábrica de soroalbumina bovina (BSA -- ... A fábrica fica na Ilha Norte da Nova ... desenvolvido e estabelecido na fábrica da Proliant nos ... . O projeto e instalação dos equipamentos foram ...
(Date:2/11/2016)... M&A achieved through NPS and Dyax acquisitions and the announced ... through NPS and Dyax acquisitions and the announced combination with ... NPS and Dyax acquisitions and the announced combination with Baxalta ... pipeline in Shire , s history   ... in Shire , s history   --> ...
Breaking Medicine Technology: