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Presentation1 genetic

Presentation1 genetic






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    Presentation1 genetic Presentation1 genetic Presentation Transcript

    • Tay Sachs Disease By: Alex Mancino
    • Background info on Tay Sachs• Causes intense mental and physical deterioration at a young age• Currently there is no cure• Mutations in the HEXA gene cause Tay-Sachs disease
    • Genetic Information• Autosomal recessive genetic disorder• It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent• Mutation is on 15th chromosome
    • Mutation on 15th chromosome
    • When each parent has the gene…• 50% chance that their child will be a carrier, but not have the disease• 25% chance that their child will not be a carrier and not have the disease• 25% chance that their child will have the disease
    • What actually happens?• Harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain• Insufficient activity of an enzyme called beta- hexosaminidase A that catalyzes the biodegradation of the gangliosides
    • Affected Body Parts• Red spot behind eye, forms – Blindness follows• Hearing loss• Complete loss of physical movement – Seizures
    • Diagnosis• Complete physical evaluation• A detailed history of symptoms and family hereditary disorders• Eye examination – Looking for red spot on eye• Blood test – A blood test can measure hexosaminidase A (hex A) activity – Parents can get blood tests to see if they carry the Tay Sachs gene
    • Prognosis• You’re screwed• Death usually occurs by the time the child is 5 years old• In cases where kids get Tay Sachs later on in childhood (rare) they usually die once the reach their teen years
    • History of Disease• Named after Warren Tay and Bernard Sachs• Warren Tay – First described red spot on retina in 1881• Bernard Sachs – Did further research and described the changes in cells during Tay Sachs – also noted an increased prevalence of Tay Sachs disease in the eastern and central European Jewish population
    • Bibliography• http://nervous-system.emedtv.com/tay-sachs- disease/history-of-tay-sachs-disease.html• http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm• http://ghr.nlm.nih.gov/condition/tay-sachs-disease• http://kidshealth.org/parent/medical/genetic/tay_sachs.htm