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Fragile X Syndrome

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zuzana
9 diapositives · 1.5K Views · Sep 13, 2014

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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Fragile X Syndrome
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  1. Fragile X Syndrome

  2. 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.

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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?

  8. Test Question • What is the gene that causes Fragile X? • FMR1 gene