Mutations in the two genes that cause the disease tuberous sclerosis complex, or TSC, interfere with the normal formation of axons, the long and thin strands that conduct electrical signals between brain cells, researchers contend in a report in Genes and Development.
The paper also shows that in mouse models of TSC, the cancer drug rapamycin can normalize axon formation, providing further evidence for its potential as a treatment for TSC and autism.
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A specific gene in the chromosomal region 22q11 is important for normal brain connectivity and synapse formation, and its absence may lead to schizophrenia, researchers are reporting today in Nature Neuroscience. The same team first linked a deletion in the chromosomal region to the disorder 13 years ago.
