Genetics

Children With Autism Have Mitochondrial Dysfunction, Study Finds

Source: 
Science Daily
Date Published: 
November 30, 2010
Abstract: 

Children with autism are far more likely to have deficits in their ability to produce cellular energy than are typically developing children, a new study by researchers at UC Davis has found. The study, published in the Journal of the American Medical Association (JAMA), found that cumulative damage and oxidative stress in mitochondria, the cell's energy producer, could influence both the onset and severity of autism, suggesting a strong link between autism and mitochondrial defects.

Brain Scans Detect Autism's Signature

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

An autism study by Yale School of Medicine researchers using functional magnetic resonance imaging (fMRI) has identified a pattern of brain activity that may characterize the genetic vulnerability to developing autism spectrum disorder (ASD).

The team identified three distinct "neural signatures": trait markers -- brain regions with reduced activity in children with ASD and their unaffected siblings; state markers -- brain areas with reduced activity found only in children with autism; and compensatory activity -- enhanced activity seen only in unaffected siblings. The enhanced brain activity may reflect a developmental process by which these children overcome a genetic predisposition to develop ASD.

Modeling Autism in a Dish

Source: 
Medical News Today
Date Published: 
November 12, 2010
Abstract: 

A collaborative effort between researchers at the Salk Institute for Biological Studies and the University of California, San Diego, successfully used human induced pluripotent stem (iPS) cells derived from patients with Rett syndrome to replicate autism in the lab and study the molecular pathogenesis of the disease.

Testing Autism Drugs in Human Brain Cells

Source: 
MIT Technology Review
Date Published: 
November 12, 2010
Abstract: 

A team from the University of California, San Diego, and the Salk Institute for Biological Studies devised a way to study brain cells from patients with autism, and found a way reverse cellular abnormalities in neurons that have been associated with autism, specifically Rett Syndrome.

Inhibitory Neurons Key to Understanding Neuropsychiatric Disorders

Source: 
Science Daily
Date Published: 
November 11, 2010
Abstract: 

In 1999, Baylor College of Medicine researcher Dr. Huda Zoghbi and her colleagues identified mutations in the gene called MECP2 as the culprit in a devastating neurological disorder called Rett syndrome . In new research in mice published in the current issue of the journal Nature, Zoghbi and her colleagues demonstrate that the loss of the protein MeCP2 in a special group of inhibitory nerve cells in the brain reproduces nearly all Rett syndrome features.

Gene Discovery Supports Link Between Handedness And Language-Related Disorders

Source: 
Medical News Today
Date Published: 
November 8, 2010
Abstract: 

Scientists at the Wellcome Trust Centre for Human Genetics, University of Oxford, have identified a genetic variant which influences whether a person with dyslexia is more skilled with either the left or right hand. The finding identifies a novel gene for handedness and provides the first genetic evidence to support a much speculated link between handedness and a language-related disorder.

Parental Autoimmune Diseases Associated with Autism Spectrum Disorders in Offspring

Source: 
Epidemiology, Keil, Daniels et al
Date Published: 
November 2010
Year Published: 
2010

Studies have suggested associations between immune response and idiopathic disorders (such as autism). This study explores associations between parental autoimmune disorders and children's diagnosis of autism by linking. The study found associations between parental autoimmune disorders and autism spectrum disorders, suggesting parental autoimmune disorders may represent a pathway that warrants more detailed investigation.

Neurogenetics Research Sheds Light on the Causes of Neurological Disease

Source: 
Science Daily
Date Published: 
October 21, 2010
Abstract: 

The last two decades have seen tremendous progress in understanding the genetic basis of human brain disorders. Research developments in this area have revealed fundamental insights into the genes and molecular pathways that underlie neurological and psychiatric diseases. In a new series of review articles, experts in the field discuss exciting recent advances in neurogenetics research and the potential implications for the treatment of these devastating disorders.

Study Links Immune Protein to Abnormal Brain Development

Source: 
Medical News Today
Date Published: 
October 15, 2010
Abstract: 

Insight into the role that MHC plays in the nervous system and may enhance our understanding of the factors that can contribute to neuropsychiatric disorders like autism and schizophrenia. Increased levels of a protein called major histocompatibility complex, or MHC, in fetal neurons may be a factor development of autism or schizophrenia.

How Immune Response in Pregnancy May Lead to Brain Disfunction in Offspring

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

A pregnant woman's immune response to viral infections may induce subtle neurological changes in the unborn child that can lead to an increased risk for neurodevelopmental disorders including schizophrenia and autism.