Saturday, March 17, 2012

Fragile X Syndrome and its Causes

     Fragile X syndrome is a recessive genetic disorder that is caused by the mutation to the X chromosomes. The mutation happens in the Mental Retardation 1 (FMR1) gene of the arms of the X chromosome. That gene is responsible for a specific protein to help the brain function right. The mutated gene also contains a repetition of sequence of the DNA that can cause autism. 
 
     The disorder can be passed on from one generation to another. Women are more than likely to be carriers of that disease than be affected because the female has two X chromosomes. Men, on the other hand can easily get FXS from their mother carriers since they only have one X chromosome. 1 in 4000 males and 1 in 8000 females have a chance of being affected. It is kind of a rare disease, but it is the most common cause of inherited mental retardation. When the parents pass it on to their offsprings, they would not be able to notice the disorder until later on in life. it does not come when they are babies.

History

     Fragile X syndrome is also known as the Martin-Bell syndrome. In 1943, J.Purdon Martin and Julia Bell looked into a family that consisted of males with mental retardation. Martin and Bell showed that the disorder was X-linked inheritance. In 1969, Herbet Lubs developed a test that showed a genetic material on the arms of the X chromosome, he called marker X chromosomes. Lubs found the material in the affected males and their unaffected females siblings. By 1970, Frederick Hecht identified the "fragile x" site and the FMR1 gene was noticed in 1991.

Symptoms

Mental disorders:
     - hyperactivity
     - mental retardation
     - short attention span
     - repetition of activity
     - social and emotional behavior problems
Phyiscal phenotype:
     - large ears
     - long face
     - double jointed thumbs
     - flat feet
     - soft skin
     - low muscle tone
 

Diagnosis, Treatment or Cure, Prevention, Current Reseach

     Fragile X is diagnosed by chromosomal test (created by Herbert Lubs). The doctors can take a sample of the person's blood and check for any mutation in the FMR1 gene. There is currently no cure for the disorder, but there are some treatments. Kids with Fragile X can attend special education classes and behavioral and speech therapy to help maintain the symptoms. To try to prevent the offspring from getting the disorder, the carrier can do genetic counseling to help lower the possibilities of children having FXS.
     There are research groups out there still trying to find a cure for Fragile X. The FRAXA research foundation has a way you can donate to help find a cure. Here is the link: http://www.fraxa.org/donation.aspx

Informative Video

Sources