Media reporting of research often has its challenges. An research article1 says:
Autism-Associated Mutations in ProSAP2/Shank3 Impair Synaptic Transmission and Neurexin-Neuroligin-Mediated Transsynaptic Signaling.
Arons MH, Thynne CJ, Grabrucker AM, Li D, Schoen M, Cheyne JE, Boeckers TM, Montgomery JM, Garner CC.Abstract
Mutations in several postsynaptic proteins have recently been implicated in the molecular pathogenesis of autism and autism spectrum disorders (ASDs), including Neuroligins, Neurexins, and members of the ProSAP/Shank family, thereby suggesting that these genetic forms of autism may share common synaptic mechanisms. Initial studies of ASD-associated mutations in ProSAP2/Shank3 support a role for this protein in glutamate receptor function and spine morphology, but these synaptic phenotypes are not universally penetrant, indicating that other core facets of ProSAP2/Shank3 function must underlie synaptic deficits in patients with ASDs. In the present study, we have examined whether the ability of ProSAP2/Shank3 to interact with the cytoplasmic tail of Neuroligins functions to coordinate pre/postsynaptic signaling through the Neurexin-Neuroligin signaling complex in hippocampal neurons of Rattus norvegicus. Indeed, we find that synaptic levels of ProSAP2/Shank3 regulate AMPA and NMDA receptor-mediated synaptic transmission and induce widespread changes in the levels of presynaptic and postsynaptic proteins via Neurexin-Neuroligin transsynaptic signaling. ASD-associated mutations in ProSAP2/Shank3 disrupt not only postsynaptic AMPA and NMDA receptor signaling but also interfere with the ability of ProSAP2/Shank3 to signal across the synapse to alter presynaptic structure and function. These data indicate that ASD-associated mutations in a subset of synaptic proteins may target core cellular pathways that coordinate the functional matching and maturation of excitatory synapses in the CNS.
This news was subsequently reported in the media.2, 3 One media article says:
The team discovered that autism was caused by mutated brain proteins, called Shank3, weakening communication between brain cells.
Head researcher Jo Montgomery said that the discovery was exciting because it meant treatments could be investigated.
An article4 elsewhere grumbles about how this is reported (briefly) in the media.5 It says:
This headline is loosely based on recent research into the impact of a previously discovered genetic mutation on the ability of brain cells to transmit signals. The Telegraph speculated that misfiring signals could cause the symptoms of autism.
The study was conducted using rat brain cells, and did not involve people with autism directly.
...
While the Telegraph appropriately pointed out that a treatment based on this research is years away, their coverage of the study is flawed. To start with, this research did not discover a genetic mutation in people with autism. That link had been previously established. The Telegraph’s coverage also fails to mention that the study was conducted in rats, and further misguides readers by picturing a scan of a human brain.
Readers should be aware that journalists are writing to sell papers, not reporting accurately on science. They may get a better understanding from the research articles than from the media ... or not. Scientists are motivated to publish peer-reviewed papers; they are far less motivated these days to explain their research clearly or to finalise a treatment/therapy protocol for a challenge facing the community.
1. http://www.jneurosci.org/content/32/43/14966.abstract
2. Scientists make autism breakthrough
3. Mutations linked to autism
4. 'Autism gene discovered' by researchers
5. Genetic mutation discovered in people with autism