Genetics

UT Southwestern researchers uncover fragile X syndrome gene's role

Source: 
EurekAlert
Date Published: 
May 7, 2010
Abstract: 

Researchers at UT Southwestern Medical Center have discovered how the genetic mutation that causes Fragile X syndrome, the most common form of inherited mental retardation, interferes with the "pruning" of nerve connections in the brain. They found Fragile X is caused by a mutation in a single gene, Fmr1, on the X chromosome. The gene codes for a protein called FMRP, which plays a role in learning and memory but whose full function is unknown. The protein's role in pruning nerve connections had been unclear.

Mutation Could Point Tourette Treatment

Source: 
Wall Street Journal
Date Published: 
May 6, 2010
Abstract: 

Researchers identified a rare genetic mutation that may open a new avenue for treating Tourette syndrome in a study published Wednesday that examined a family in which the father and all eight children suffer from the neurological disorder.

The family's mutation affected a gene required to produce histamine. Pharmaceutical companies are already developing drugs for other conditions that target the brain's histamine system. The study's researchers are planning a clinical trial of adults with Tourette to see if those drugs would help control the motor and vocal tics that characterize the condition.

New Research Raises Hope that Autism Effects May Be Reversible

Source: 
Medical News Today
Date Published: 
April 22, 2010
Abstract: 

A new study by researchers at The George Washington University School of Medicine and Health Sciences' Department of Biochemistry and Molecular Biology raises hope that autism may be more easily diagnosed and that its effects may be more reversible than previously thought. Researchers have identified potentially removable chemical tags (called "methyl groups") on specific genes of autistic individuals that led to gene silencing. They also observed these changes in cells derived from blood, opening the way to molecular screening for autism using a blood test.

Brain Development Steered By Newly Discovered RNA

Source: 
Medical News Today
Date Published: 
April 16, 2010
Abstract: 

New research from the lab of Michael Greenberg, Nathan Marsh Pusey professor and chair of neurobiology at HMS, in collaboration with bioinformatics specialist and neuroscientist Gabriel Kreiman, assistant professor of ophthalmology at Children's Hospital, Boston, has found that a particular set of RNA molecules widely considered to be no more than a genomic oddity are actually major players in brain development - and are essential for regulating the process by which neurons absorb the outside world into their genetic machinery.

New Study Of Autism Reveals a 'DNA tag' Amenable To Treatment

Source: 
EurekAlert
Date Published: 
April 8, 2010
Abstract: 

A new discovery raises hope that autism may be more easily diagnosed and that its effects may be more reversible than previously thought. In a new study appearing online in The FASEB Journal, scientists have identified a way to detect the disorder using blood and have discovered that drugs which affect the methylation state ("DNA tagging") of genes could reverse autism's effects. This type of drug is already being used in some cancer treatments.

Autism Susceptibility Genes Identified

Source: 
Medical News Today
Date Published: 
March 26, 2010
Abstract: 

Two genes have been associated with autistic spectrum disorders (ASD) in a new study of 661 families. Researchers writing in BioMed Central's newly launched journal Molecular Autism found that variations in the genes for two brain proteins, LRRN3 and LRRTM3, were significantly associated with susceptibility to ASD.

Better Genetic Test for Autism?

Source: 
Science Daily
Date Published: 
March 15, 2010
Abstract: 

A large study from Children's Hospital Boston and the Boston-based Autism Consortium finds that a genetic test that samples the entire genome, known as chromosomal microarray analysis, has about three times the detection rate for genetic changes related to autism spectrum disorders (ASDs) than standard tests.

Autism and Schizophrenia: Research Builds on Genetic Link

Source: 
Medical News Today
Date Published: 
February 24, 2010
Abstract: 

A genetic link between schizophrenia and autism is enabling researchers to study the effectiveness of drugs used to treat both illnesses. Dr. Steve Clapcote from the University of Leeds's Faculty of Biological Sciences will be analyzing behavior displayed by mice with a genetic mutation linked to schizophrenia and autism and seeing how antipsychotic drugs affect their behavioral abnormalities.

Gene Mutation is Linked to Autism-Like Symptoms in Mice, Reseachers Find

Source: 
Science Daily
Date Published: 
February 24, 2010
Abstract: 

When a gene implicated in human autism is disabled in mice, the rodents show learning problems and obsessive, repetitive behaviors, researchers at UT Southwestern Medical Center have found. The researchers also report that a drug affecting a specific type of nerve function reduced the obsessive behavior in the animals, suggesting a potential way to treat repetitive behaviors in humans

Time to Regroup on Autism

Source: 
CNN.com
Date Published: 
February 3, 2010
Abstract: 

Alison Singer says link between autism, vaccinations debunked but research progressing. But, she says, new science is overshadowed as some cling to discredited study. Some parents put kids in danger by still avoiding vaccines, trying dicey "therapies". New research should move forward with science as a guide.