FXS, or Fragile X syndrome is a medical condition that causes intellectual disability, learning and behavioural challenges, and various physical characteristics. This article will help you understand the various causes of Fragile X syndrome and how is it inherited.
What are the Causes of Fragile X Syndrome?
Let's explore the main causes of Fragile X syndrome:
Mutation of the FMR1 gene:
Fragile X syndrome is the result of a genetic mutation of the FMR1 gene located on the X chromosome. When this gene mutates or malfunctions, it impedes normal brain development.CGG triplet repeat expansion:
Typically, the FMR1 gene contains a DNA segment called the CGG triplet repeat that is repeated around 5 to 40 times. But in those with fragile X, this repeat expands to over 200 repetitions.Silencing the FMR1
This abnormal expansion of the CGG segment causes the FMR1 gene to be silenced. With the gene inactivated, the body cannot produce a vital protein called FMRP that regulates synaptic connections between nerve cells. Without enough FMRP, nerve cell communication is disrupted.Impact on nerve cells:
The lack of FMRP protein adversely affects the nervous system, disrupting normal neural development and function. This impairs cognitive abilities, learning, and behaviour control - which are hallmarks of Fragile X syndrome.
Conclusion
A deeper understanding of the underlying genetics brings hope to those affected by Fragile X syndrome. Additionally, health insurance coverage can help cover the costs of diagnosis, treatment and other support services for children and adults living with fragile X.