Huntington's Disease Protein Wires Early Brain Development

Statistics show that about 1 in every 10,000 people has Huntington's disease--a neurodegenerative disorder that can result in uncontrolled movements, cognitive problems and emotional disturbances. Now, researchers from Duke University in Durham, NC, have found that a protein mutation linked to the disease determines critical, related wiring of the brain early in life. 

"The study is exciting because it means that, if we understand what these developmental errors are, we may be able to interfere with the first stage of the disease, before it shows itself," said lead study author Cagla Eroglu, an assistant professor of cell biology in the Duke University Medical School, and member of the Duke Institute for Brain Sciences, in a news release. 

Several years back, researchers discovered a formation of new synapses in the early brain development of mice. These connections were found throughout the body and formed clumps in the brain cells of those with the health issue.

For their current research, study authors created mice with Htt deleted in the cortex--a part of the brain that is implicated in the disease and works to control perception, memory and thought.

At three weeks old, researchers found that the synapses began to form more rapidly compared to those of healthy mice. The researchers further investigated the changes found via synaptic function in the mice and discovered severe alterations.

"There's something about that particular circuit that is vulnerable to changes in Htt," Eroglu added, stressing the missing cortical Htt and signs of cellular stress found in similar regions of the brain.

Lastly, researchers discovered the same pattern in early brain development of Huntington's patients as those seen in the mice. The animals also carried one normal copy of the Htt gene along with a mutated copy that produced protein.

"We think this is probably a common thing, but that's something we're working on: whether we can detect early signs of faulty connections, correct it before the disease starts, and make these mice better," Eroglu concluded.

More information regarding the findings can be seen via the Journal of Neuroscience.