Findings May Lead to Therapies for Down Syndrome

May allow researchers to design strategies to promote brain functioning and improve quality of life

Researchers announced a possible breakthrough this week that could help people with Down Syndrome.

A finding that lifelong changes in gene expression in the brains of people born with Down may lead to therapies, according to the research, published in the journal Neuron.

According to Medical Xpress, Down occurs in one out of every 691 live births and is the most common genetic cause of intellectual disability, affecting approximately 400,000 Americans. And with more advanced prenatal tests, pro-life advocates worry, unborn children are at increasing risk of being aborted.

Though no treatment is currently available for Down, the work of researchers led by Tarik Haydar, associate professor of anatomy and neurobiology at Boston University, and Nenad Sestan, professor of neuroscience at Yale, may open the way to therapies. The team discovered that the establishment of white matter in the brain, which is the insulation of the brain nerve fibers (i.e., axons) is altered from toddler to adult periods of development.

Medical Xpress explained:

This finding was unexpected given the current theory that many changes leading to intellectual disability occur prenatally in DS. They also showed that the white matter changes in the brain are due to specific developmental defects in a class of brain cells called oligodendrocytes that form the white matter of the brain, and that this causes slower nerve transmission.

“This discovery of the genetic changes that alter communication within the brain uncovered a completely new target for therapies in the brains of people with DS,” explained Haydar. “These findings may allow researchers to design strategies to promote brain functioning and improve quality of life,” he added.

The researchers also believe these findings may have profound implications for individuals with other developmental disabilities, such as autism.