Researchers have deduced that a stem cell differentiation process at the embryonic stage may play a key role in the development of fragile X syndrome, the most common inherited intellectual disability in children.
Fragile X syndrome is a genetic disorder that causes intellectual disability, physical irregularities and autism features in about a third of patients. It has no cure, but early intervention provides the best opportunity for the child to develop a full range of skills.
But a team of researchers from the Ann & Robert H. Lurie Children’s Hospital of Chicago have discovered how the genetic defect in fragile X syndrome delays production of neurons (nerve cells) at a critical time in the embryo’s brain development.
“During embryonic brain development, the right neurons have to be produced at the right time and in the right numbers,” Dr Yongchao Ma, senior author and researcher at Lurie Children’s, said, according to Eureka Report.
“We focused on what happens in the stem cells that leads to slower production of neurons that are responsible for brain functions including learning and memory. Our discoveries shed light on the earliest stages of disease development and offer novel targets for potential treatments.”
This leaves open the possibility of therapies for fragile X syndrome in order to improve patient outcomes and quality of life.
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