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group_5_presentation_2_-_tay-sachs_disease [2017/03/10 12:50] bhandm |
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| ====== Tay Sachs Disease ====== | ====== Tay Sachs Disease ====== | ||
| - | Tay Sachs is a fatal genetic disorder which occurs due to the deletion of an enzyme called beta-hexosaminidase A (also known as, HEXA), resulting in the accumulation of fatty acid GM2 ganglioside in neurons. This eventually leads to the progressive malfunctioning and degeneration of neurons. | + | Tay Sachs is a fatal genetic disorder which occurs due to the deletion of an enzyme called beta-hexosaminidase A (also known as, HEXA), resulting in the accumulation of fatty acid GM2 ganglioside in neurons. This eventually leads to the progressive malfunctioning and degeneration of neutrons (GHR, n.d.). |
| ===== Signs & Symptoms ===== | ===== Signs & Symptoms ===== | ||
| - | Tay Sachs affects the individual differently based on when their onset is: early (infantile and childhood ages) or late onset (adolescence and onwards). For early onset, the disease is not evident until about 6 months after the baby is born. Around 6 months, the child may show signs of reduced muscle function coming from progressive muscle weakness, twitching and muscle jerks. They will also have a greater sensitivity to sound, for example if they hear an unexpected sound, they will be startled (NORD, 2016). One characteristic sign of Tay Sachs is the development of “cherry red spots” found in the eyes. "Cherry red spots" are apparent in 90% of Tay Sachs disease cases (NORD, 2016). These spots are formed by macular degeneration and causes the choroid of the eye to be exposed. The choroid has blood vessels that supply blood to the retina. The child may also have a difficult time learning new motor movements such as holding eye contact (NORD, 2016). Children between ages 2-10 will experience a reduction in coordination, movement and intellectual abilities. They may also develop a variety of eye disorders such as optic atrophy which results in the loss of nerve function that delivers messages to brain to form images and retinitis pigmentosa which eventually results in the degeneration of the retina (NORD, 2016). Child may also experience a loss of speech and their speech will be slurred. | + | Tay Sachs affects the individual differently based on when their onset is: early (infantile and childhood ages) or late onset (adolescence and onwards). For early onset, the disease is not evident until about 6 months after the baby is born. Around 6 months, the child may show signs of reduced muscle function coming from progressive muscle weakness, twitching and muscle jerks. They will also have a greater sensitivity to sound, for example if they hear an unexpected sound, they will be startled (NORD, n.d). One characteristic sign of Tay Sachs is the development of “cherry red spots” found in the eyes. "Cherry red spots" are apparent in 90% of Tay Sachs disease cases (NORD, n.d.). These spots are formed by macular degeneration and causes the choroid of the eye to be exposed. The choroid has blood vessels that supply blood to the retina. The child may also have a difficult time learning new motor movements such as holding eye contact (NORD, n.d). Children between ages 2-10 will experience a reduction in coordination, movement and intellectual abilities. They may also develop a variety of eye disorders such as optic atrophy which results in the loss of nerve function that delivers messages to brain to form images and retinitis pigmentosa which eventually results in the degeneration of the retina (NORD, n.d.). Child may also experience a loss of speech and their speech will be slurred. |
| - | For late onset symptoms, the individual will experience a reduction of motor coordination resulting from muscle weakness and wasting, involuntary muscle contractions, twitches and tremors. May also experience slurred speech which significantly reduces their ability to interact with others. In addition, you see the sign of mood changes and deterioration in mental health (NORD, 2016). Overall, they’re unable to engage in and complete daily tasks such as driving, walking or interacting with others as one normally would be able to. | + | For late onset symptoms, the individual will experience a reduction of motor coordination resulting from muscle weakness and wasting, involuntary muscle contractions, twitches and tremors. May also experience slurred speech which significantly reduces their ability to interact with others. In addition, you see the sign of mood changes and deterioration in mental health (NORD, n.d.). Overall, they’re unable to engage in and complete daily tasks such as driving, walking or interacting with others as one normally would be able to. |
| <style center> | <style center> | ||
| <box width classes round white centre| **Tay Sachs Disease: Cherry Red Spots**> {{:cherry_red_spots.png|}}</box| Figure 1: Characteristic "cherry red spots" found in individuals with Tay Sachs disease. | <box width classes round white centre| **Tay Sachs Disease: Cherry Red Spots**> {{:cherry_red_spots.png|}}</box| Figure 1: Characteristic "cherry red spots" found in individuals with Tay Sachs disease. | ||
| - | (NORD, 2016).> | + | (NORD, n.d.).> |
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| ===== Current Therapeutic Approach ===== | ===== Current Therapeutic Approach ===== | ||
| - | <box 20% round right | > {{:miglustat_.jpg|}} </box|Figure 6: Chemical Structure of Miglustat (synthetic analogue of D-glucose)> | + | <box 20% round right | > {{:miglustat_.jpg|}} </box|Figure 6: Chemical Structure of Miglustat (synthetic analogue of D-glucose). Modified from (DrugBank, 2016)> |
| An anticonvulsant is a medication used to control seizures (convulsions) or stop an ongoing series of seizures and is often used to treat individuals with Tay-Sachs but may not be effective in all people. An anticonvulsant called Miglustat, which is an analogue of D-glucose, is currently in clinical trials and has proven to be successful in tay-sachs induced mouse models (Osher et al., 2011). | An anticonvulsant is a medication used to control seizures (convulsions) or stop an ongoing series of seizures and is often used to treat individuals with Tay-Sachs but may not be effective in all people. An anticonvulsant called Miglustat, which is an analogue of D-glucose, is currently in clinical trials and has proven to be successful in tay-sachs induced mouse models (Osher et al., 2011). | ||
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| Because of the potential of feeding difficulties, infants should be monitored for nutritional status and proper hydration. In addition to nutritional support and supplementation, a feeding tube may be necessary to help prevent food, liquid or other foreign material from accidentally going into the lungs (Osher et al., 2011). | Because of the potential of feeding difficulties, infants should be monitored for nutritional status and proper hydration. In addition to nutritional support and supplementation, a feeding tube may be necessary to help prevent food, liquid or other foreign material from accidentally going into the lungs (Osher et al., 2011). | ||
| - | <box 37% round | > {{:feeding_tube_diagram.jpg|}} </box|Figure 7: Feeding tube used for children to prevent food from entering the lungs> | + | <box 37% round | > {{:feeding_tube_diagram.jpg|}} </box|Figure 7: Feeding tube used for children to prevent food from entering the lungs. Modified from (ThisAbility, 2016)> |
| ===== Investigational Therapies ===== | ===== Investigational Therapies ===== | ||
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| ===== References ===== | ===== References ===== | ||
| - | 1. About NTSAD. (n.d.). Retrieved from https://www.ntsad.org/index.php/about | + | 1. NTSAD. (n.d.). About NTSAD. Retrieved from https://www.ntsad.org/index.php/about |
| 2. Bergeron, S. (1997). Tay-Sachs. Retrieved from http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997%20Case%20Studies/S.%20Bergeron.html | 2. Bergeron, S. (1997). Tay-Sachs. Retrieved from http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997%20Case%20Studies/S.%20Bergeron.html | ||
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| 14. Neudorfer, O., Pastores, G.M., Zeng, B.J., Gianutsos, J., Zaroff, C.M., & Kolodny, E.H. (2005). Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients. Genetics in Medicine, 7, 119-123. | 14. Neudorfer, O., Pastores, G.M., Zeng, B.J., Gianutsos, J., Zaroff, C.M., & Kolodny, E.H. (2005). Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients. Genetics in Medicine, 7, 119-123. | ||
| - | 15. NORD. (2016). Tay Sachs Disease. Retrievedfrom https://rarediseases.org/rare-diseases/tay-sachs-disease/ | + | 15. NORD.(n.d.).Tay Sachs Disease. Retrieved from https://rarediseases.org/rare-diseases/tay-sachs-disease/ |
| 16. Osher, E., Fattal-Valevski, A., Sagie, L., Urshanski, N., Amir-Levi, Y., Katzburg, S., ... & Navon, R. (2011). Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs. Molecular genetics and metabolism, 102(3), 356-363. | 16. Osher, E., Fattal-Valevski, A., Sagie, L., Urshanski, N., Amir-Levi, Y., Katzburg, S., ... & Navon, R. (2011). Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs. Molecular genetics and metabolism, 102(3), 356-363. | ||
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| 20. Sánchez-Fernández, E. M., Fernández, J. M. G., & Mellet, C. O. (2016). Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, G M1-gangliosidosis and Fabry diseases. Chemical Communications, 52(32), 5497-5515. | 20. Sánchez-Fernández, E. M., Fernández, J. M. G., & Mellet, C. O. (2016). Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, G M1-gangliosidosis and Fabry diseases. Chemical Communications, 52(32), 5497-5515. | ||
| - | 21. Tay Sachs Disease. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/tay-sachs-disease/ | + | 21. Tuck, E., & Cavalli, V. (2010). Roles of membrane trafficking in nerve repair and regeneration. Communicative & Integrative Biology, 3(3), 209-214. |
| - | 22. Tay Sachs disease (2017). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/tay-sachs-disease | + | 22. Walkley, S.U., Siegel, D.A., & Dobrenis, K. (1995). GM2 ganglioside and pyramidal neuron dendritogenesis. Neurochemical Research, 20(11), 1287-1299. |
| - | 23. Tuck, E., & Cavalli, V. (2010). Roles of membrane trafficking in nerve repair and regeneration. Communicative & Integrative Biology, 3(3), 209-214. | + | 23. Withrock, I. C. et. al. (2015). Genetic diseases conferring resistance to infectious diseases. Genes & Diseases, 2(3): 247-254. doi: 10.1016/j.gendis.2015.02.008 http://www.sciencedirect.com/science/article/pii/S2352304215000239 |
| - | 24. Walkley, S.U., Siegel, D.A., & Dobrenis, K. (1995). GM2 ganglioside and pyramidal neuron dendritogenesis. Neurochemical Research, 20(11), 1287-1299. | + | 24. Yu, R.K., Bieberich, E., Xia, T., & Zeng, G. (2004). Regulation of ganglioside biosynthesis in the nervous system. Journal of Lipid Research, 45(5), 783-793. |
| - | 25. Withrock, I. C. et. al. (2015). Genetic diseases conferring resistance to infectious diseases. Genes & Diseases, 2(3): 247-254. doi: 10.1016/j.gendis.2015.02.008 http://www.sciencedirect.com/science/article/pii/S2352304215000239 | + | 25. Yu, R.K., Tsai, Y., & Ariga, T. (2012). Functional roles of gangliosides in neurodevelopment – An overview of recent advances. Neurochemical Research, 37(6), 1230-1244. |
| - | 26. Yu, R.K., Bieberich, E., Xia, T., & Zeng, G. (2004). Regulation of ganglioside biosynthesis in the nervous system. Journal of Lipid Research, 45(5), 783-793. | + | 26. Yu, R.K., Tsai, Y., Ariga, T., & Yanagisawa, M. (2011). Structures, biosynthesis, and functions of gangliosides – An overview. Journal of Oleo Science, 60(10), 537-544. |
| - | + | ||
| - | 27. Yu, R.K., Tsai, Y., & Ariga, T. (2012). Functional roles of gangliosides in neurodevelopment – An overview of recent advances. Neurochemical Research, 37(6), 1230-1244. | + | |
| - | + | ||
| - | 28. Yu, R.K., Tsai, Y., Ariga, T., & Yanagisawa, M. (2011). Structures, biosynthesis, and functions of gangliosides – An overview. Journal of Oleo Science, 60(10), 537-544. | + | |
