Results of a genetic linkage analysis of PRKCB1 with autism published
Scientists working at IntegraGen SA, the personalized medicines company, have shown that variations in the gene for protein kinase C beta 1 (PRKCB1), a protein with an important role in brain function, are strongly associated with autism. This exciting finding suggests some answers to a number of previous, but unexplained, observations about autism and provides the potential for a mechanistic explanation for some of the characteristics of the condition. The results of the study are published today in the journal Molecular Psychiatry.
The PRKCB1 gene is expressed in the granule cells within the cerebellum (a region of the brain) where the PRKCB1 protein plays a central role in the transmission of signals by the granule cells to the Purkinje cells. It has previously been reported that there is a decreased number of both granule and Purkinje cells in the brains of autistic individuals and the association of PRKCB1 with autism reported in this study indicates that the cerebellum may play a key role in many of the brain activities that are impaired in autism. Another intriguing observation is that studies using animal models have shown that PRKCB1 is involved in auditory reversal learning. Considered in light of IntegraGen’s results, this suggests that deficiency of the protein might lead to the impairment of this learning capacity, as is frequently seen in autism.
Rowan Minnion | alfa
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