Early overgrowth: In their first few weeks of development, organoids with two intact copies of CHD8 (top) developed excitatory neurons more slowly than organoids missing a copy of the gene (bottom). Editor’s Note This article was originally published 11 January 2021, based on preliminary findings presented at the Society for Neuroscience annual meeting. The results […]
Lack of isolation: Mutations in the MYT1L gene deactivate a transcription factor that is important for myelin-forming cells that coat nerve fibers. Biophoto Associates / Science Source A variety of traits, including developmental delay and intellectual disability, characterize people with mutations in the autism-related MYT1L gene, according to a new study. The gene encodes a […]
Increased interest: SCN2A-deficient mice are more likely to socialize like control mice after a mutation in the gene has been corrected. Georgejason / iStock Treatments that counteract the effects of a mutation in an autism-related gene in mice increase the sociability of animals in adulthood, according to a new unpublished study. The researchers presented the […]
Genetic burden: Autistic people who carry rare mutations (three middle bars) have a greater burden than non-autistic people (left bar), but a lower burden than autistic people who lack such mutations (right bar). About one in four people with autism carry rare genetic mutations in genes strongly related to autism or other neurodevelopmental disorders far […]
Gene-free zone: Mutations in promoters, stretches of non-coding DNA that modulate the expression of genes, contribute to autism in some people. CRAFTSCI / Science Photo Library Mutations in non-coding parts of the genome contribute to autism in at least 3 percent of people with this condition. The mutations affect regions that help regulate known genes […]
Family Matters: Spontaneous genetic mutations are much more likely to contribute to autism in children whose siblings are unaffected than in children whose siblings do. Imimimagery / Adobe Stock Spontaneous genetic mutations contribute to autism in 30 to 39 percent of people with the condition, an increase from previous estimates, according to a new study. […]
Gymnastics Visual / Getty Images About 1 in 15 men carries genetically damaging mutations – some linked to autism or congenital heart disease – only in their semen, a small study suggests. An advanced DNA sequencing technique detected the “mosaic” mutations in 25 men in the general population. Mosaic mutations arise after conception and therefore […]
Some mutations that disable SCN2A, one of the genes most closely linked to autism, can make neurons unexpectedly hyperexcitable, a study in mice shows. The results could help explain why a significant proportion of autistic children with mutations in SCN2A have epileptic seizures. SCN2A codes for Nav1.2, a sodium ion channel that helps transmit electrical […]
Non-Coding Contributors: New evidence links autism to three spontaneous mutations in a part of the genome that regulates the EBF3 gene. Spontaneous mutations in “non-coding” regions of the genome have been linked to autism, according to a new study. The work strongly supports the idea that the genetic roots of autism lie not only in […]
In den späten 1990er Jahren, als Christopher Walsh daran arbeitete, das Gen zu identifizieren, das eine neurologische Entwicklungsstörung namens Doppelkortex-Syndrom verursacht, bemerkte Christopher Walsh etwas Seltsames: Die Genmutation, die er für verantwortlich hielt, die er bei zwei Geschwistern mit der Krankheit beobachtet hatte, war ebenfalls vorhanden bei ihrer nicht betroffenen Mutter. „Wir wussten nicht, was […]
