Last week we wrote about work from the lab of Ricardo Dolmetsch at Stanford University who generated neurons from the skin of people with a form of autism. The goal is to compare those to neurons from people without autism to see where the differences lie and search for drugs to erase those differences.
Postdoctoral fellow and CIRM training grant recipient Alex Shcheglovitov, one of the scientists who worked on this research, sends today's photo of the week. It shows neurons generated from people with Phelan-McDermid syndrome in red and neurons from people without the syndrome in yellow. People with the syndrome have developmental delays, severely impaired speech, intellectual disabilities and an increased risk of autism.
The group was able to find specific differences between the two groups of neurons, including differences in how the cells transmit signals. They also found a protein that seems to make the neurons from people with PMDS behave more normally. There's more about the work in last week's blog entry. There's also more about our funding of autism research on our autism fact sheet.
Shcheglovitov A, Shcheglovitova O, Yazawa M, Portmann T, Shu R, Sebastiano V, Krawisz A, Froehlich W, Bernstein JA, Hallmayer JF, & Dolmetsch RE (2013). SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. Nature PMID: 24132240