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Bloom syndrome

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  • Transcript

    • 1. Bloom Syndrome
    • 2. Bloom Syndrome By Cassidy Estabrooke
    • 3. Definition
    • 4. Definition• Bloom Syndrome is an inherited disorder that is characterized by short stature, sun sensitive skin changes, & increased chances of cancer and other serious health problems.Cells from a person with Bloom syndrome exhibit a striking genomic instability that includes excessive homologous recombination.
    • 5. What are some signs of Bloom Syndrome?
    • 6. What are some signs of Bloom Syndrome?• People with Bloom Syndrome have low birth weight and length.• They remain much skinner and smaller than their other family members.• They often grow to be less than 5 feet tall.• Reddening of the skin.• Develop dilated blood vessels.
    • 7. Common or not?
    • 8. Common or not?• This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.• Bloom Syndrome’s overall affected percentage is unknown but 1 in every 50,000 that are affected have jewish backgrounds. If both parents carry the gene there is a 1 in 4 chance the child will have Bloom Syndrome.
    • 9. Bloom syndrome has an autosomalrecessive pattern of inheritance.
    • 10. Is It Treatable?
    • 11. Is It Treatable?• There is no treatment for the underlying cause of Bloom’s syndrome. Preventative measures such as increased surveillance for cancer and decreased exposure to sunlight and X-rays should be taken. Bone marrow transplant is a possibility.
    • 12. • Mutations in the BLM gene cause Bloom syndrome.BLM gene mutations prevent the BLM protein from performing its function in maintaining genomic stability. As a result of the altered BLM protein activity, the frequency of sister chromatid exchange increases about 10-fold, which is a hallmark of Bloom syndrome. Increased sister chromatid exchange is an indicator of chromosome instability. It is associated with gaps and breaks in the genetic material that impair normal cell activities and cause the health problems associated with this condition. Altered BLM protein activity may also lead to an increase in cell death, resulting in slow growth in affected individuals.
    • 13. What genes are related?• Mutations in the BLM gene cause Bloom syndrome.BLM gene mutations prevent the BLM protein from performing its function in maintaining genomic stability. As a result of the altered BLM protein activity, the frequency of sister chromatid exchange increases about 10-fold, which is a hallmark of Bloom syndrome. Increased sister chromatid exchange is an indicator of chromosome instability. It is associated with gaps and breaks in the genetic material that impair normal cell activities and cause the health problems associated with this condition. Altered BLM protein activity may also lead to an increase in cell death, resulting in slow growth in affected individuals.
    • 14. Other Names...
    • 15. Other Names...• Blooms syndrome• Bloom-Torre-Machacek syndrome• congenital telangiectatic erythema
    • 16. Sources...
    • 17. Sources...• "Bloom Syndrome." Genetics Home Reference. Web. 01 Apr. 2012. <http://ghr.nlm.nih.gov/condition/bloom- syndrome>.• "Bloom Syndrome." Wikipedia. Wikimedia Foundation, 21 Mar. 2012. Web. 27 Mar. 2012. <http://en.wikipedia.org/wiki/ Bloom_syndrome>.• "The BloomSyndrome Foundation." Stichting Bloom Syndroom. Web. 01 Apr. 2012. <http:// www.bloomsyndrome.eu/whatis.php>.

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