Genetics

IVF Linked to Autism

Source: 
Science Daily
Date Published: 
June 14, 2010
Abstract: 

The first "test tube baby" was born in 1978. With advances in reproductive science, an estimated one percent of all American babies are now born each year through in vitro fertilization (IVF). But IVF and other assisted fertility treatments may be solving one problem by creating another, suggests new evidence from Tel Aviv University.

Functional impact of global rare copy number variation in autism spectrum disorders

Source: 
Nature
Date Published: 
June 7, 2010
Abstract: 

This study analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs), especially so for loci previously implicated in either ASD and/or intellectual disability. Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53–PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signaling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.

Mutations in the SHANK2 Synaptic Scaffolding Gene in Autism Spectrum

Source: 
Nature Genetics, Berkel et al
Date Published: 
June 2010
Year Published: 
2010

Using microarrays, the department of molecular human genetics in Heidelberg, Germany identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation. DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases, including a de novo nonsense mutation and seven rare inherited changes. Their findings further link common genes between ASD and intellectual disability.

IntegraGen Announces Publication of Four Genetic Variants in Autism

Source: 
Medical News Today
Date Published: 
May 14, 2010
Abstract: 

IntegraGen SA, a French biotechnology company dedicated to gene discovery, announced today the publication of the results of a collaborative study reporting the use of a combined analysis of multiple genetic variants in a genetic score to help identify individuals at high risk of developing autism.

Schizophrenia Shares Genetic Links with Autism, Genome Study Shows

Source: 
Scientific American
Date Published: 
May 10, 2010
Abstract: 

Schizophrenia involves some of the same genetic variations as autism and attention deficit disorders, a new whole-genome study has confirmed. In an effort to assess some of the common genetic variations that might underpin this fairly common but thorny mental illness, researchers sequenced DNA from 1,735 adults with schizophrenia and 3,485 healthy adults. Across the patients that had the disease, the researchers found many frequent variations related to copying or deleting genes, known as copy-number variations.

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.