Nerve Cell Defects in Autism Spectrum Disorder Discovered

Neuroscientists at Case Western Reserve University School of Medicine have discovered changes in nerve cell function caused by mutation of the gene responsible for Rett syndrome,. As reported this week in the Journal of Neuroscience, a team led by David M. Katz, Ph.D., professor of neurosciences, has found changes in the way that nerve and endocrine cells regulate the secretion of molecules that are critical for cell-to-cell communication and the body’s response to stress.

With grants from the NIH and the Rett Syndrome Research Foundation, Dr. Katz and his team have been able to zero in on problems in the way nerve cells regulate the production and secretion of one particular molecule, brain-derived neurotrophic factor (BDNF), that is critically important for brain development and function. Using nerve cells grown in culture, they found that there is a disruption in the normal balance between how much BDNF a cell makes and how much is secreted.

This is likely to lead to situations in which nerve cells release either too much or too little BDNF, thus disrupting processes that depend on precise regulation of BDNF levels.

Moreover, Dr. Katz’s team has identified similar problems with the secretion of adrenal hormones called catecholamines. Dr. Katz believes that these secretion defects may therefore be a common thread contributing to the complex problems in the brain and other organ systems that characterize Rett syndrome.