Genetics

New Autism Susceptibilty Genes Identified

Source: 
Medical News Today
Date Published: 
June 10, 2010
Abstract: 

Mount Sinai researchers and the Autism Genome Project Consortium (AGP) announced that they have identified new autism susceptibility genes that may lead to the development of new treatment approaches. These genes, which include SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus, primarily belong to synapse-related pathways, while others are involved in cellular proliferation, projection and motility, and intracellular signaling

New Genetic Risk Factor for Both Autism and Schizophrenia

Source: 
Science Daily
Date Published: 
November 4, 2010
Abstract: 

Researchers have uncovered a prominent genetic risk factor for autism spectrum disorders and schizophrenia is a small genomic deletion. Remarkably, they found the same deletion on chromosome 17 in 24 separate patients. This CNV was absent in 52,448 controls, making the finding statistically significant. Someone with this deletion is 13.58 times more likely to develop ASD or schizophrenia than is someone lacking this CNV. This gene mutation is also known to cause kidney disease (renal cysts and diabetes syndrome, RCAD).

Language Delays Found in Siblings of Children with Autism

Source: 
Medical News Today
Date Published: 
October 3, 2010
Abstract: 

A new study, led by researchers at Washington University School of Medicine in St. Louis, found mild traits, not strong enough to provoke a diagnosis of autism, seem to be present in the siblings of affected children at significantly higher rates than seen in the general population.

Siblings of children with autism have more frequent language delays and other subtle characteristics of the disorder than previously understood. Girls also may be mildly affected more often than recognized in the past.

Discovery of Key Pathway Interaction May Lead to Therapies that Aid Brain Growth and Repair

Source: 
Science Daily
Date Published: 
September 16, 2010
Abstract: 

Researchers at the Center for Neuroscience Research at Children's National Medical Center have discovered that the two major types of signaling pathways activated during brain cell development. This knowledge may help scientists design new ways to induce the brain to repair itself when these signals are interrupted, and indicate a need for further research to determine whether disruptions of these pathways in early brain development could lead to common neurodevelopmental disorders such as epilepsy, cerebral palsy, autism, Down syndrome, ADHD, and intellectual disabilities.

Autism Drug Aims to Balance Brain Signals

Source: 
New Scientist
Date Published: 
September 15, 2010

Link to Autism in Boys Found in Missing DNA

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

If a boy's X-chromosome is missing the PTCHD1 gene or other nearby DNA sequences, they will be at high risk of developing ASD or intellectual disability. Girls are different in that, even if they are missing one PTCHD1 gene, by nature they always carry a second X-chromosome, shielding them from ASD.

Scientists Measure Gene Mutation Rate in Autism and Schizophrenia

Source: 
Medical News Today
Date Published: 
August 30, 2010
Abstract: 

An international study led by University of Montreal scientists suggests family history may not be a good predictor of the presence of mutations predisposing to autism or schizophrenia. The findings show how new or de novo gene mutations - alterations of the cell's DNA - play a role in these devastating conditions.

Researchers Connect APC Protein to Autism and Mental Retardation

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

A clue to the causes of autism and mental retardation lies in the synapse, the tiny intercellular junction that rapidly transfers information from one neuron to the next. According to neuroscientists at Tufts University School of Medicine, with students from the Sackler School of Graduate Biomedical Sciences at Tufts, a protein called APC (adenomatous polyposis coli) plays a key role in synapse maturation, and APC dysfunction prevents the synapse function required for typical learning and memory.

Gene Scan Finds Link Across Array of Childhood Brain Disorder

Source: 
EurekAlert
Date Published: 
August 22, 2010
Abstract: 

Mutations in a single gene can cause several types of developmental brain abnormalities that experts have traditionally considered different disorders. With support from the National Institutes of Health, researchers found those mutations through whole exome sequencing – a new gene scanning technology that cuts the cost and time of searching for rare mutations. Whole exome sequencing can be applied to dozens of other rare genetic disorders where the culprit genes have so far evaded discovery. Such information can help couples assess the risk of passing on genetic disorders to their children. It can also offer insights into disease mechanisms and treatments.

Developmental Problems, Some Exist in the Genes

Source: 
Medical News Today
Date Published: 
August 18, 2010
Abstract: 

DNA for each individual contains variants that are more or less common in the overall population.

Some gene variations are actually genetic deletions, where sections of DNA 'code' are missing entirely. These variants are likely to have important effects on gene function and, therefore, likely to contribute to diseases associated with that gene. But what happens when multiple genes are disrupted in a single family?