Navigation Links
New discovery in autism-related disorder reveals key mechanism in brain development and disease
Date:1/14/2013

A new finding in neuroscience for the first time points to a developmental mechanism linking the disease-causing mutation in an autism-related disorder, Timothy syndrome, and observed defects in brain wiring, according to a study led by scientist Ricardo Dolmetsch and published online yesterday in Nature Neuroscience. These findings may be at the heart of the mechanisms underlying intellectual disability and many other brain disorders.

The present study reveals that a mutation of the disease-causing gene throws a key process of neurodevelopment into reverse. That is, the mutation underlying Timothy syndrome causes shrinkage, rather than growth, of the wiring needed for the development of neural circuits that underlie cognition.

"In addition to the implications for autism, what's really exciting is that we now have a way to get at the core mechanisms tying genes and environmental influences to development and disease processes in the brain," said Dolmetsch, Senior Director of Molecular Networks at the Allen Institute for Brain Science.

"Imagine what we can learn if we do this hundreds and hundreds of times for many different human genetic variations in a large-scale, systematic way. That's what we are doing now at the Allen Institute," Dolmetsch continued.

In normal brain development, brain activity causes branches emanating from neural cells to stretch or expand. In cells with the mutation, these branched extensions, called dendrites, instead retract in response to neural activity, according to this study. This results in abnormal brain circuitry favoring connections with nearby neurons rather than farther-reaching connections. Further, the study identified a previously unknown mode of signaling to uncover the chemical pathway that causes the dendritic retraction.

This finding may have wide-reaching implications in neuroscience, as impaired dendrite formation is a common feature of many neurodevelopmental disorders. Further, the same gene has been implicated in other disorders including bipolar disorder and schizophrenia.

Under Dolmetsch's leadership, the Molecular Networks program at the Allen Institute, one of three major new initiatives announced by the Institute last March, is using similar methods on a grand scale. The Institute is probing a large number of human genetic variations and many pathways in the brain to untangle the cellular mechanisms of neurodevelopment and disease. In addition to identifying the molecular and environmental rules that shape how the brain is built, the program will create new research tools and data sets that it will share publicly with the global research community.

Timothy syndrome is a neurodevelopmental disorder associated with autism spectrum disorders and caused by a mutation in a single gene. In addition to autism, it is also characterized by cardiac arrhythmias, webbed fingers and toes, and hypoglycemia, and often leads to death in early childhood.


'/>"/>
Contact: Steven Cooper
press@alleninstitute.org
646-358-2765
Allen Institute for Brain Science
Source:Eurekalert

Related biology news :

1. Discovery of Africa moth species important for agriculture, controlling invasive plants
2. Discovery may pave way to genetically enhanced biofuel crops
3. LSUHSC research discovery provides therapeutic target for ALS
4. Discovery of pathway leading to depression reveals new drug targets
5. Discovery of 100 million-year-old regions of DNA shows short cut to crop science advances
6. Discovery of molecular pathway of Alzheimers disease reveals new drug targets
7. The Journal of Biological Chemistry commemorates an important 1987 discovery
8. GW Research chosen as paper of the week for blood coagulation discovery
9. NIH-funded genetic sequencing tool speeds drug discovery, disease diagnostics
10. Discovery of reprogramming signature may help further stem cell-based regenerative medicine research
11. King Richard III search in new phase after discovery has potential to rewrite history
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/30/2017)... -- On April 6-7, 2017, Sequencing.com will host the world,s ... at Microsoft,s headquarters in Redmond, Washington ... health and wellness apps that provide a unique, personalized ... is the first hackathon for personal genomics and the ... the genomics, tech and health industries are sending teams ...
(Date:3/28/2017)... 28, 2017 The report "Video ... Monitors, Servers, Storage Devices), Software (Video Analytics, VMS), and ... Global Forecast to 2022", published by MarketsandMarkets, the market ... is projected to reach USD 75.64 Billion by 2022, ... The base year considered for the study is 2016 ...
(Date:3/23/2017)... 23, 2017 The report "Gesture Recognition and Touchless Sensing ... Geography - Global Forecast to 2022", published by MarketsandMarkets, the market is expected ... 29.63% between 2017 and 2022. Continue Reading ... ... ...
Breaking Biology News(10 mins):
(Date:8/16/2017)... , ... August 16, 2017 , ... ... into a different cell type. Many treatments for specific cancers, such as breast, ... of targeted treatment is androgen deprivation therapy for advanced prostate cancer. , ...
(Date:8/16/2017)... year,s edition of the Inc. 5000 features a now-familiar name: BioPoint ( ... the list for the third year in a row. Now in its ... on a set of quantitative metrics. In addition, BioPoint was also named ... Bay State . ... 5000 ...
(Date:8/15/2017)... San Diego, CA (PRWEB) , ... August 15, ... ... science company pioneering graphene biosensors that accelerate pharmaceutical and biotherapeutics development, announces the ... reduces the number of steps needed to gain kinetic binding data for a ...
(Date:8/15/2017)... (PRWEB) , ... August 15, 2017 , ... The ... time on Immuno-Oncology 360° (IO360°) programming through a series of upcoming panels and events. ... February 7-9, 2018, at The Roosevelt Hotel in New York City. , “With our ...
Breaking Biology Technology: