Clinic > Risk Factors > Genetics > How do autism risk genes affect brain function?

How Do Autism Risk Genes Affect Brain Function?

Recent evidence suggests that an atypical form of Rett syndrome caused by mutations in the CDKL5 gene may result from the disruption of synapse stability in dendritic spines, small protrusions on a neuron that harbor a synapse and receive neural signals. The majority of Rett syndrome cases are caused by mutations in the MECP2 gene. Click the link at the bottom of this page to learn more about MECP2 and how its activity may relate to CDKL5 function.

Brain development is an extremely complicated process. Thousands of genes are involved, and problems with any one of them can alter brain function. Several of the known autism risk genes affect the connections (also called synapses) between brain cells called neurons.

To understand what roles genes play in the brain, let's take a closer look at neuronal development and structure.


Neurons Develop Tree-Like Architecture

Catherine C. Swanwick, Ph.D., NIDCD/NIH

Neurons develop in a manner similar to a tree. The cell body acts as the ‘seed’, containing all the information needed to instruct the neuron how to grow. In the right environment, neurons will extend ‘stems’ known as dendrites which will then branch in complex patterns to form a tree-like arbor. In fact, the word dendrite actually originates from the Greek word dendron, meaning tree. Neurons also extend another projection called an axon, which can be thought of as the ‘root’ in our tree metaphor. Whereas dendrites receive information from other neurons, axons send information to other neurons.

Synapses Form Between Axons and Dendrites

Neurons communicate by forming synapses between axons and dendrites. After neurons appear, they can extend axons for long distances in order to reach their appropriate targets. Once there, they branch into axon terminals which form synapses with other neurons via special parts of dendrites called dendritic spines. In the tree metaphor described above, dendritic spines can be thought of as the ‘leaves’ of the dendritic branches.