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:6/26/2016)... Carolina (PRWEB) , ... June 26, 2016 , ... ... of a new product that was developed to enhance the health of felines. The ... centuries. , The two main herbs in the PawPaws Cat Kidney Support ...
(Date:6/25/2016)... ... 2016 , ... The temporary closing of Bruton Memorial Library on June 21 due to a ... new, often overlooked aspect of head lice: the parasite’s ability to live away from a ... occurrence, but a necessary one in the event that lice have simply gotten out of ...
(Date:6/25/2016)... ... ... Friday, June 10, Van Mitchell, Secretary of the Maryland Department of Health and Mental ... exemplary accomplishments in worksite health promotion. , The Wellness at Work Awards took place ... BWI Marriott in Linthicum Heights. iHire was one of 42 businesses to receive an ...
(Date:6/24/2016)... ... ... Marcy was in a crisis. Her son James, eight, was out of control. Prone to ... , “When something upset him, he couldn’t control his emotions,” remembers Marcy. “If there ... my other children and say he was going to kill them. If we were ...
(Date:6/24/2016)... ... ... of Topricin and MyPainAway Pain Relief Products, join The ‘Business for a Fair Minimum Wage’ ... 2020 and then adjusting it yearly to increase at the same rate as the median ... floor does not erode again, and make future increases more predictable. , The company is ...
Breaking Medicine News(10 mins):
(Date:6/26/2016)... , June 27, 2016  VMS Rehab Systems, ... Board will take whatever measures required to build a ... stock which is currently listed on the OTC Markets-pink ... Company Chairman and CEO, "We are seeing an anomaly ... to understand, not only by the Company, but shareholders ...
(Date:6/24/2016)... FRANCISCO, Calif. , June 24, 2016 /PRNewswire/ ... ), a biopharmaceutical company developing novel therapeutics for ... unmet needs, today announced the closing of its ... of common stock, at the public offering price ... in the offering were offered by GBT. GBT ...
(Date:6/24/2016)... -- The Academy of Managed Care Pharmacy (AMCP) today ... allow biopharmaceutical companies to more easily share health care ... coverage decisions, a move that addresses the growing need ... The recommendations address restrictions in the sharing of product ... a prohibition that hinders decision makers from accessing HCEI ...
Breaking Medicine Technology: