A quarterly publication of the Autism Research Institute

The Autism Research Review International is quarterly publication of the Autism Research Institute


Researchers explore effects of Kctd13 deletion and possible drug treatments

Researchers are exploring two potential treatments for autism linked to deletion of a gene called Kctd13.

While previous research linked deletion of this gene to abnormal brain size in autism, new research on mice by Christine Ochoa Escamilla and colleagues found the deletion did not affect brain size. Instead, the deletion reduced the number of synaptic connections between neurons in the animals’ brains. This decrease correlated with higher levels of a protein called RhoA, which impairs synaptic transmission.

The researchers then tested the effects of two RhoA-inhibiting drugs, Rhosin and Exoenzyme C3. Both treatments restored normal synaptic transmission in less than 4 hours. However, the effects were short-term. “In the future,” lead author Craig Powell says, “we hope to perform experiments to determine if long-term in vivo administration of these or similar drugs might also lead to long-lasting restoration of synaptic function in the brain.”


“Kctd13 deletion reduces synaptic transmission via increased RhoA,” Christine Ochoa Escamilla, Irina Filonova, Angela K. Walker, Zhong X. Xuan, Roopashri Holehonnur, Felipe Espinosa, Shunan Liu, Summer B. Thyme, Isabel A. López-García, Dorian B. Mendoza, Noriyoshi Usui, Jacob Ellegood, Amelia J. Eisch, Genevieve Konopka, Jason P. Lerch, Alexander F. Schier, Haley E. Speed, and Craig M. Powell, Nature, Vol. 551, November 9, 2017, 227-31. Address: Craig M. Powell, Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, Texas 75390-8813. 


“Study: Autism treatments may restore brain connections,” James Beltran, UT Southwestern Medical Center, November 1, 2017.