Novel Shank3 mutant exhibits behaviors with face validity for autism and altered striatal and hippocampal function.
Thomas C Jaramillo, Haley E Speed, Zhong Xuan and 6 others
PMID 27492494WHAT IT FOUND
Mice carrying a SHANK3 mutation showed less social interest, more repetitive grooming, poorer spatial learning, and altered brain synaptic function.
These are model findings, not evidence for a therapy.
Key findings
01Both heterozygous and homozygous Shank3 E13 mice spent more time grooming than wildtype mice.
02Heterozygous mice lacked normal social preference, and mutant mice showed impaired social recognition memory; homozygous mice also showed reduced approach to a caged adult.
03In brain slices, mutant mice showed impaired activity-dependent strengthening at hippocampal synapses and a lower balance of NMDA receptor currents relative to AMPA receptor currents in striatum.
STILL TO COME
How it was doneWhat they found
Read the rest of this summary
You get three full summaries a month, free, and we do not ask for a card. Search, the TL;DRs and your library stay unlimited either way.
What it does not show
This is a mouse study, not a study of patients, so it cannot show what a therapist should do with a person with autism or Phelan-McDermid syndrome. No treatment was tested, so there is no clinical effect to apply. The behaviors are compared with autism-like features, and the authors note phenotypes can be highly variable among mouse models and patients. Some social deficits appeared in heterozygous mice but not homozygous mice, and some anxiety-related measures were normal, so the pattern is not uniform. The behavioral cohort was 55 mice, and sex differences were observed in some tasks, which may affect how the findings are read.
The easy way to misread this
Do not treat this as evidence that any therapy helps autism. The study tested mutant mice, not patients, and no treatment was given.