Many of the genes that have emerged as the strongest autism candidates have turned out to regulate the expression of hundreds, if not thousands, of other genes. Within these networks, scientists are homing in on pathways that underlie autism.
A new algorithm accurately detects large DNA insertions and deletions in the protein-coding regions of the genome.
The protein missing in fragile X syndrome is necessary for mice to respond to the stimulant cocaine, according to a study published 7 May in Neuron.
Researchers have identified nearly 4,000 genetic regions that may be critical for brain function, and harbor mutations involved in disorders such as autism, they reported 25 May in Nature Genetics.
A repeated sequence within the gene mutated in fragile X syndrome forms unusual loops of genetic material, reports a study published 17 April in PLoS Genetics. The loops may trigger a cascade of genetic changes that push a precursor mutation into one that causes the disorder.
Autism, schizophrenia and intellectual disability share underlying deficits in pathways that regulate how the brain encodes new experiences, says Jason Shepherd.
FMRP, the protein absent or mutated in fragile X syndrome, aids in strategic elimination of neuronal connections during brain development in mice, according to a study published 26 February in The Journal of Neuroscience.
Roughly one-third of children with fragile X syndrome also have an autism diagnosis. Studies published in the past few months, however, suggest that the set of autism-like symptoms seen in people with fragile X syndrome may only resemble autism superficially.
A teenager with fragile X syndrome carries a rare mutation that changes a single amino acid in the FMRP protein, researchers reported 22 January in the European Journal of Human Genetics.
Spontaneous and rare mutations, particularly in genes related to networks that regulate neuronal connections, contribute a small but significant proportion of the risk for schizophrenia, report two large studies published online 22 January in Nature.