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Big Cells in “Little Brain” may be Involved with Autism


For release: Wednesday, April 10, 2013

TSC Changes Purkinje Cells
TSC Changes Purkinje Cells
TSC mutations changed the structure and electrical activity of Purkinje cells found in mouse cerebellum and caused behaviors reminiscent of autism. Courtesy of Dr. Mustafa Sahin lab, Harvard Medical School, Boston, MA

Nestled in the back and bottom part of the brain is a distinctive-looking region called the cerebellum.  Nicknamed “the little brain,” the cerebellum is primarily known for controlling movement and coordination.  Previous studies have suggested that the cerebellum may also be one of the brain regions involved with autism and tuberous sclerosis complex (TSC), a rare genetic disease often associated with autism.

Researchers published a study suggesting that problems with a neuron in the cerebellum, called the Purkinje cell, may be involved with autism. Purkinje cells are large neurons distinguished by dendrites which have a branching pattern resembling an olive tree (see figure).

The researchers studied mice genetically engineered to have a human TSC mutation exclusively in Purkinje cells.  These mice had repetitive and abnormal social behaviors reminiscent of autism. The TSC mutation also reduced the number of Purkinje cells with age and changed the structure and electrical activity of the remaining cells.  TSC genes normally inhibit the activity of a protein found in many cells called mTOR.  Treating TSC mice with rapamycin, an mTOR inhibitor, early in development prevented the autism-like behaviors and Purkinje cell loss.  These results support the idea that cerebellar Purkinje cells may be involved with autism like spectrum disorders.

Reference:

Tsai et al., “Autistic-like behavior and cerebellar dysfunction in Purkinje cell TSC1 mutant mice.” Nature, August 30, 2012, Vol. 488, pp. 647-651. DOI: 10.1038/nature11310
http://www.ncbi.nlm.nih.gov/pubmed/22763451

Last Modified January 29, 2014