Brain signatures of rare variants hint at cardiovascular risk
People whose brains look like those of people who carry autism-linked copy number variants also share markers of heart health.
Autism and the cell’s antennae | Spectrum | Autism Research News
Many autism-linked genes are somehow tied to cilia, the tiny hair-like sensors that stud a cell’s surface. But the question remains whether, and how, cilia differences contribute to the condition.
Autism subgroups converge on cell growth pathway | Spectrum | Autism Research News
Faulty mTOR signaling, implicated in syndromic forms of autism, also hinders cells grown from people with idiopathic autism or autism-linked deletions on chromosome 16.
Common and rare autism-linked variants share functional effects | Spectrum | Autism Research News
Within the 16p region of the genome, the two types of variants similarly decrease neuronal gene expression — an effect that may reflect their spatial relationship.
Excess of ‘don’t eat me’ cell signals may drive brain enlargement in autism | Spectrum | Autism Research News
The signal, called CD47, is disrupted in autistic people who have a larger-than-average head.
Gene in autism hotspot regulates neuronal migration | Spectrum | Autism Research News
Restoring the gene, TAOK2, in mice missing an autism-linked region of chromosome 16 normalizes neuronal movement during development.
Autism’s genetic heterogeneity evident in brain connectivity patterns | Spectrum | Autism Research News
The results highlight the importance of subgrouping study participants based on their underlying genetics, the researchers say.
Sequencing trick identifies brain cells affected by large autism-linked mutation | Spectrum | Autism Research News
The method, called Orgo-Seq, reveals that a deletion of genes on chromosome 16 increases the proportion of immature neurons and neural precursors in brain organoids derived from people with the mutation.
Different forms of autism have opposite problems with brain precursor cells | Spectrum | Autism Research News
The cells’ altered proliferation rates hint at ways to diagnose and potentially treat autism earlier.
Heart anomalies abound in mouse models of autism | Spectrum | Autism Research News
Of nine genetic models examined in a new study, all had some incidence of cardiac abnormalities. But the problems varied widely depending on the affected genes.
Autism News International