The essential problem with fragile X syndrome is that brain cells have a defect in a gene (FMR1) such that this gene cannot produce its normal product, the Fragile X protein (FMRP). Without this protein, brain cells cannot communicate clearly with each other.
This underlies the learning and behavioral problems in fragile X. Research to address these problems falls under four main categories:
- Fix the gene so that it can make its normal protein (gene therapy)
- Make and deliver the protein by some other means (protein replacement therapy)
- Substitute for the function of the protein
- Treat the symptoms of fragile X
Many researchers believe that medical treatment, when it becomes available, will be able to help people with fragile X of all ages. Experts think that the missing FMR-1 protein has a regulatory function in the brain, rather than a structural function, and that this protein is needed throughout a person's life.
Currently, however, treating the symptoms is the only option available. Available interventions such as medication, special education and psychological counseling are improving constantly and can be very effective.
However, the ultimate cure for fragile X will need to address the cause by fixing the gene or finding other ways to deliver the FMR1 protein or its equivalent to brain cells.
For more information on current research into fragile X and related disorders, visit these websites:
- National Fragile X Foundation
- The FRAXA Research Foundation
- Conquer Fragile X Foundation
- The Carolina Fragile X Project
- The M.I.N.D. Institute, UC Davis
There are four types of genetic disorders:
- Single Gene or Mendelian, such as sickle cell anemia or Huntington’s disease,
- Multifactorial or Polygenic, such as diabetes and Alzheimer’s,
- Chromosomal, such as Down's Syndrome
- Mitochondrial, which are rare mutations in nonchromosomal DNA of mitochondria.
Fragile X is a chromosomal disorder.
More information about genetics.