A gene that regulates the conversion of testosterone to estrogen in the brain could help explain why males are more susceptible to autism than are females, according to a study published in PLoS One in February.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
Neuroligin-4, a protein associated with autism, is located at synapses — the junctions between neurons — that inhibit signals in the brain, according to a study published in February in the Proceedings of the National Academy of Sciences. The protein can also single-handedly induce neurons derived from human stem cells to form synapses, according to another study in the same issue.
Disrupted-in-schizophrenia 1, or DISC1— a protein associated with both autism and schizophrenia — is involved in the transport of mitochondria, the power-houses of the cell, to their correct locations in neurons, according to a study published in February in Molecular Psychiatry.
The first study to look at mitochondria — the powerhouses of the cell — in postmortem brain tissue taken from children with autism has found significant abnormalities in their function in some regions of the brain.
Mutations in a gene that organizes synapses — the junctions between neurons — may increase the risk of autism, according to a study published in February in Autism Research. The study bolsters evidence linking a pathway involved in cell-to-cell communication to autism.
It’s too soon to call it a diagnostic test for autism, but an algorithm that detects patterns in brain waves shows promise as one component of a screening battery for the disorder, say researchers familiar with the work.
The first international meeting on Phelan-McDermid syndrome brought together researchers and family members of those affected by the disorder, sparking collaboration and some emotion.