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Bio Lab presentation

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Lala Park

on 20 April 2010

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Transcript of Bio Lab presentation

Tay-Sachs Disease Background Information also known as TSD, GM2 gangliosidosis, or Hexosaminidase A Deficiency autosomal recessive genetic disorder genetic defect in a single gene with one defective copy of that gene inherited from each parent (mutations on chromosome 15 in the HEXA gene)
rare
no cure What happens? harmful quantities of gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of those cells named after British ophthalmologist Warren Tay who first described the red spot on the retina of the eye in 1881 American neurologist Bernard Sachs of Mount Sinai Hospital, New York described the cellular changes of Tay-Sachs and noted it's prevalence in the Eastern European Jewish (Ashkenazi) population in 1887 Classification and Symptoms Infantile TSD most common form
child becomes blind, deaf, and unable to swallow.
Muscles begin to atrophy and paralysis sets in.
Commences around 6 months
Death usually occurs before the age of 4 Juvenile TSD Adult/Late Onset TSD between 2 and 10 years of age
die between 5–15 years

20s and early 30s
frequently misdiagnosed, and is usually non-fatal
speech and swallowing difficulties, unsteadiness of gait, spasticity, cognitive decline, and psychiatric illness, particularly schizophrenic-like psychosis

insufficient activity of an enzyme called hexosaminidase A that catalyzes the biodegradation of fatty acid derivatives known as gangliosides unable to remove the GalNAc residue from the GM2 ganglioside, and as a result, they end up storing 100 to 1000 times more GM2 gangliosides in the brain than the normal person misfolded hexosaminidase A
storage of the ganglioside, primarily in the lysosomes of neuronal cells
incorrect folding or assembly of the enzyme, so that intracellular transport is disabled
"cherry-red" macula Effective gene therapy in an authentic model of Tay-sachs related diseases M. Begoña Cachón-González, Susan Z. Wang, Andrew Lynch, Robin Ziegler, Seng H. Cheng and Timothy M. Cox National Academy of Sciences gene therapy to correct the underlying lysosomal defect

Sandhoff mice lack the ß-subunit of hexoaminidase
exhibit very similar symptoms to Tay-Sachs
die before 20 weeks of age
inoculated with recombinant adeno-associated viral (rAAV) vectors encoding complementing human ß-hexosaminidase α and ß subunits widespread and sustained expression of hexosaminidase activity in the brain and spinal cord reduced pathological storage and information
delayed onset of neurological symptoms
survival was greatly prolonged mice that received an injection of α+ß or just ß subunits at the age of 4 weeks showed reduced GM2 and GA2 ganglioside storage compared to 16wk old untreated mice
multiple injections of the vector led to greater reduction of ganglioside storage Results treated mice lived beyond a year Gene delivery of ß-hexosaminidase by using viral vectors has realistic potential for treating human Tay-Sachs Prevention Carrier Testing Prenatal Testing Society and Culture Ashkenazi Jews
Cajuns
French Canadians Eugenics Tay & Sachs Works Cited Cachón-González, M. Begoña. "Effective Gene Therapy in an Authentic Model of Tay-Sachs-Related
Diseases." Proceedings of the National Academy of Sciences of the United States of
AmericaProceedings of the National Academy of Sciences of the United States of America 103.27
(2006): 10373-0378. Jstor. Web. 14 Apr. 2010. <http://www.jstor.org/stable/30049631>.

Okada, Shintaro, and John S. O'Brien. "Tay-Sachs Disease: Generalized Absence of a Beta-D-N
Acetylhexosaminidase Component." Science, New Series 165.3894 (1969): 698-700. Jstor. Web. 14
Apr. 2010. <http://www.jstor.org/stable/1727891>.

Paritzky, Jane F. "Tay-Sachs: The Dreaded Inheritance." The American Journal of Nursing 85.3 (1985):
260-64. Jstor. Web. 15 Apr. 2010. <http://www.jstor.org/stable/3424967>.

Reuter, Shelley Z. "The Genuine Jewish Type: Racial Ideology and Anti-Immigrationism in Early Medical
Writing about Tay-Sachs Disease." The Canadian Journal of Sociology 31.3 (2006): 291-323. Jstor.
Web. 15 Apr. 2010. <http://www.jstor.org/stable/20058712>.

Wikipedia contributors. "Tay-Sachs disease." Wikipedia, The Free Encyclopedia. Wikipedia, The Free
Encyclopedia, 14 Apr. 2010. Web. 16 Apr. 2010.
Lala Park
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