People with autism and those with duplications of the 15q11-13 chromosomal region share a distinctive pattern of gene expression in the brain, according to unpublished research presented Friday at the Dup15q Alliance Scientific Meeting in Sacramento, California.
Spectrum: Autism Research News
Neurons derived from individuals who carry extra copies of an autism-linked chromosomal region have gene expression patterns that are unexpectedly similar to those of neurons with deletions of the region. The unpublished findings were presented Thursday at the Dup15q Alliance Scientific Meeting in Sacramento, California.
Mice that express elevated levels of an autism-linked gene in the nucleus of neurons show social and communication problems, according to unpublished research presented Thursday at the Dup15q Alliance Scientific Meeting in Sacramento, California.
Two weeks of treatment with a cancer drug called topotecan boosts expression for a year of the gene that’s deficient in Angelman syndrome, according to unpublished mouse research presented 20 March at the New York Academy of Sciences.
Children who carry an extra copy of the 15q11-13 region of the genome usually have autism and sleep troubles, as well as distinctive brain-wave patterns and facial features, according to a report published 14 March in Autism Research.
A net decrease in inhibitory signals in the cerebellum may underlie the movement problems seen in the autism-related disorder Angelman syndrome, according to mouse research published 5 December in Science Translational Medicine.
Mitochondrial deficits may account for the range of symptoms and neurological deficits seen in autism and explain why it preferentially affects boys, says Douglas Wallace.
Two new case studies highlight how complex rearrangements of chromosome 15 can lead to different disorders, including autism and the related Prader-Willi syndrome.
People with Phelan-McDermid syndrome, which causes severe intellectual disability and is often accompanied by autism, also have a blunted response to pain. New research on a mouse model of the syndrome, presented at the 2012 Society for Neuroscience annual meeting, aims to find out why.
Mice that model Angelman syndrome or have a duplication of the 15q11-13 chromosomal region have aberrant brain levels of the chemical messenger serotonin, according to a study published 16 August in PLoS One.