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Fragile X Syndrome. What Causes Fragile X?. In 1991, scientists discovered the gene (called FMR1) that causes fragile X. FMR1 cannot manufacture the protein that it normally makes Fragile X is inherited.

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Presentation Transcript
what causes fragile x

What Causes Fragile X?

In 1991, scientists discovered the gene (called FMR1) that

causes fragile X.

FMR1 cannot manufacture the protein that it normally makes

Fragile X is inherited.

A male who inherits a full mutation exhibits characteristics of Fragile X syndrome because his only X chromosome contains the mutated gene. A female may not be as severely affected as a male because each cell of her body needs to use only one of its two X chromosomes and randomly inactivates the other.

prevalence
Prevalence
  • Fragile X syndrome is the single most common inherited cause of mental impairment
  • Fragile X affects 1 in 2000 males
  • Fragile X affects 1 in 4000 females
  • Approximately 40% of cases with X-linked mental retardation
signs and symptoms
Signs and Symptoms
  • mental impairment, ranging from learning disabilities to mental retardation
  • attention deficit and hyperactivity
  • anxiety and unstable mood
  • autistic-like behaviors
  • long face, large ears, flat feet, and
  • hyperextensible joints, especially fingers
  • Seizures (epilepsy) affect about 25% of people with fragile X
testing
Testing
  • A DNA based test to diagnose Fragile X was developed in 1992
  • The blood test can be ordered by any physician; the blood sample is then sent to one of the labs that offers the test
  • The test typically costs $200-$300
  • Southern Blot
  • Polymerase Chain Reaction (PCR)
  • Chromosome test
  • Protein test
slide7

There is NO cure for

Fragile X

  • However, there are a variety of ways to help minimize the symptoms of the condition
  • Those who receive appropriate education, behavioral or physical therapy, and medication have the best chance of using their individual capabilities and skills
research
Research
  • FMR protein\'s normal role is to help shape the connections between neurons (brain cells) that underlie learning and memory
  • Some questions that they are asking:
  • Why does the FMR1 gene have an increased number of CGG repeats in the promoter region?
  • What causes the increased methylation of the promoter region, which blocks the gene from producing FMRP?
  • What is the role of FMRP in the brain?
  • How does FMRP help other proteins, and what are the functions of those proteins?
test question
Test Question
  • What is the gene that causes Fragile X?
  • FMR1 gene
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