Three new studies analyzing genetic data from families in which just one child has autism have found the strongest evidence yet that rare new mutations contribute to the disorder.
Two networks of genes are abnormally expressed in the brains of people with autism, according to a study published today in Nature.
Individuals with autism have multiple mutations in a pathway that functions in the mitochondria, the energy center of the cell, according to a study published 27 April in the European Journal of Human Genetics. They also have higher-than-average numbers of variants in pathways involved in metabolism, gene expression and the regulation of cell division.
Variants of three genes involved in a metabolic pathway together raise the risk of autism, according to a study published 5 March in the Journal of Neurodevelopmental Disorders.
A gene that regulates the conversion of testosterone to estrogen in the brain could help explain why males are more susceptible to autism than are females, according to a study published in PLoS One in February.
The pattern of interactions among different genes in yeast cells changes in response to disease-like conditions, in this case a DNA-damaging agent, according to a study published 3 December in Science. Mapping epistasis — how various cellular factors work together — is key to understanding complex disorders, such as autism.
Scientists have pinpointed two major gene networks relevant to autism by analyzing gene expression in brain tissue from individuals with the disorder. Researchers presented the data Sunday at the Society for Neuroscience annual meeting in San Diego.
The loss or delay of language is one of the most common — and most noticeable — features of autism.
A drug that interferes with a biochemical pathway important in cancer can reverse some brain defects in mouse models of fragile X syndrome, according to a study published 11 August in the Journal of Neuroscience.
Two independent teams have identified the genetic culprits of three rare, inherited diseases by sequencing the genomes of several members of the same family. As the cost of whole-genome sequencing plummets, this family-based approach will reveal candidate genes not just for rare diseases but for common, complex disorders such as autism, experts say.