• Question: What is fragile X syndrome and how does it affect the human body and mind?

    Asked by Marc Jackson to Frank, Ian, Isabel, Jared, Zena on 17 Mar 2015.
    • Photo: Isabel Pires

      Isabel Pires answered on 17 Mar 2015:

      Fragile X syndrome is a genetic disease. It is caused by mutations (changes in the DNA sequence) in a gene called FMR1, which exists in the X chromosome. Because of this, it affects men (about 1:4000) more than women (about 1:6000, because women have two X chromosomes, which means you need both to have mutations for the disease to appear. When working normally, FMR1 allows connections between nerve cells (neurons) to happen.

      This disease affects the normal development of the body of the people affected by it. Unfortunately, because of this, this disease can have a negative impact in the patient’s normal lives, such as having problems concentrating, anxiety and issues with learning in certain ways.

      However, on the positive side, people with this disease are known to be very good visual learners, have great long-term memories, and are likable, sensitive to others and have a good sense of humour.