Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Genetic Disorder Gives Clues to Autism, Epilepsy, Mental Retardation

25.09.2008
In studying a rare genetic disorder called tuberous sclerosis complex (TSC), researchers at Children’s Hospital Boston have uncovered a possible cause of some neurodevelopmental disorders.

A rare genetic disorder called tuberous sclerosis complex (TSC) is yielding insight into a possible cause of some neurodevelopmental disorders: structural abnormalities in neurons, or brain cells. Researchers in the F.M. Kirby Neurobiology Center at Children’s Hospital Boston, led by Mustafa Sahin, MD, PhD, and Xi He, PhD, also found that normal neuronal structure can potentially be restored.

If this could be done safely in humans, it might be possible to ameliorate the symptoms of epilepsy, mental retardation and autism, which are frequent complications of TSC, say the researchers. Their findings, accompanied by commentary, were the cover article of the September 15 issue of Genes & Development.

TSC causes benign tumor-like lesions, which can affect every organ in the body and are called tubers when they occur in the brain. In the study, Sahin, He, lead author Yong-Jin Choi, PhD, and colleagues show in mice that when the two genes linked to the disease, TSC1 and TSC2, are inactivated, neurons grow too many axons (the long nerve fibers that transmit signals). Normal neurons grow just one axon and multiple dendrites (short projections that receive input from other neurons). This specification of axons and dendrites, known as polarity, is crucial for proper information flow.

“We think if initial polarity is not formed properly, the result will be abnormal connectivity in the brain,” says Sahin, who also directs the clinical Multi-Disciplinary Tuberous Sclerosis program at Children’s.

Since autism occurs in about half of people with TSC, the findings support the idea that such miswiring causes or contributes to autism, Sahin adds. He has received funding from Autism Speaks, the Manton Foundation and the Tuberous Sclerosis Alliance to pursue this idea further.

“People have started to look at autism as a developmental disconnection syndrome – there are either too many connections or too few connections between different parts of the brain,” Sahin says. “In mouse models of TSC, we’re seeing an exuberance of connections.”

In laboratory experiments, the researchers were able to limit multiple axon formation by using the cancer drug rapamycin to suppress production of a protein called SAD-A kinase. This protein is produced in excess when the TSC1 and TSC2 genes are inactivated, and is found in abundance in the abnormally large cells that make up tubers.

Because increased SAD-A is associated with increased axon growth, the researchers also speculate that the TSC pathway could be manipulated to regenerate or repair axons lost or damaged in spinal cord or other nerve injuries.

“These findings provide a potential explanation for neurological abnormalities in TSC patients and perhaps in people without TSC,” says He. “The challenge remains as to how to treat these conditions. We have some clues but a lot more research needs to be done.”

The study was funded by grants from the Tuberous Sclerosis Alliance, the Manton Foundation, the Hearst Fund and the National Institutes of Health.

The paper can be downloaded free of charge at: http://genesdev.cshlp.org/cgi/content/abstract/22/18/2485?ijkey=949b2a5281a96ef468052b08e52e9cab65db1470&keytype2=tf_ipsecsha.

Children's Hospital Boston is home to the world's largest research enterprise based at a pediatric medical center, where its discoveries have benefited both children and adults since 1869. More than 500 scientists, including eight members of the National Academy of Sciences, 11 members of the Institute of Medicine and 12 members of the Howard Hughes Medical Institute comprise Children's research community. Founded as a 20-bed hospital for children, Children's Hospital Boston today is a 397-bed comprehensive center for pediatric and adolescent health care grounded in the values of excellence in patient care and sensitivity to the complex needs and diversity of children and families. Children's also is the primary pediatric teaching affiliate of Harvard Medical School.

James Newton | Newswise Science News
Further information:
http://www.childrenshospital.org

More articles from Life Sciences:

nachricht New photocatalyst speeds up the conversion of carbon dioxide into chemical resources
29.05.2017 | DGIST (Daegu Gyeongbuk Institute of Science and Technology)

nachricht Copper hydroxide nanoparticles provide protection against toxic oxygen radicals in cigarette smoke
29.05.2017 | Johannes Gutenberg-Universität Mainz

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Strathclyde-led research develops world's highest gain high-power laser amplifier

The world's highest gain high power laser amplifier - by many orders of magnitude - has been developed in research led at the University of Strathclyde.

The researchers demonstrated the feasibility of using plasma to amplify short laser pulses of picojoule-level energy up to 100 millijoules, which is a 'gain'...

Im Focus: Can the immune system be boosted against Staphylococcus aureus by delivery of messenger RNA?

Staphylococcus aureus is a feared pathogen (MRSA, multi-resistant S. aureus) due to frequent resistances against many antibiotics, especially in hospital infections. Researchers at the Paul-Ehrlich-Institut have identified immunological processes that prevent a successful immune response directed against the pathogenic agent. The delivery of bacterial proteins with RNA adjuvant or messenger RNA (mRNA) into immune cells allows the re-direction of the immune response towards an active defense against S. aureus. This could be of significant importance for the development of an effective vaccine. PLOS Pathogens has published these research results online on 25 May 2017.

Staphylococcus aureus (S. aureus) is a bacterium that colonizes by far more than half of the skin and the mucosa of adults, usually without causing infections....

Im Focus: A quantum walk of photons

Physicists from the University of Würzburg are capable of generating identical looking single light particles at the push of a button. Two new studies now demonstrate the potential this method holds.

The quantum computer has fuelled the imagination of scientists for decades: It is based on fundamentally different phenomena than a conventional computer....

Im Focus: Turmoil in sluggish electrons’ existence

An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.

We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...

Im Focus: Wafer-thin Magnetic Materials Developed for Future Quantum Technologies

Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.

Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

AWK Aachen Machine Tool Colloquium 2017: Internet of Production for Agile Enterprises

23.05.2017 | Event News

Dortmund MST Conference presents Individualized Healthcare Solutions with micro and nanotechnology

22.05.2017 | Event News

 
Latest News

New insights into the ancestors of all complex life

29.05.2017 | Earth Sciences

New photocatalyst speeds up the conversion of carbon dioxide into chemical resources

29.05.2017 | Life Sciences

NASA's SDO sees partial eclipse in space

29.05.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>