Tay-Sachs disease by Keegan McDonald https://padlet.com/keeganjmcdonald/1c6en53r0ka2 Info Pamphlet for Tay-Sachs disease (Bio 12 Project) en-us 2017-08-09 22:41:52 UTC 2023-02-12 03:05:53 UTC hello@padlet.com https://padlet-assets.s3.amazonaws.com/icons/Bigthunderstorm.png What is Tay-Sachs Disease? keeganjmcdonald https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180538061 Tay-Sachs is an inherited disorder that destroys nerve cells in the Brain and Spinal Cord. ]]> 2017-08-09 22:57:28 UTC https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180538061 References keeganjmcdonald https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180538426
Autosomal Recessive Disorders | BIOL 011. (2017). Online.science.psu.edu. Retrieved 10 August 2017, from https://online.science.psu.edu/biol011_active002/node/4235

Herndon, J. (2017). Tay-Sachs Disease. Healthline. Retrieved 10 August 2017, from http://www.healthline.com/health/tay-sachs-disease#symptoms2

Landhuis, E. (2017). How Lysosomes Regulate Genes | Quanta Magazine. Quanta Magazine. Retrieved 9 August 2017, from https://www.quantamagazine.org/how-lysosomes-regulate-genes-20170425/

Learning About Tay-Sachs Disease. (2017). National Human Genome Research Institute (NHGRI). Retrieved 10 August 2017, from https://www.genome.gov/10001220/learning-about-taysachs-disease/

Reference, G. (2017). Tay-Sachs disease. Genetics Home Reference. Retrieved 9 August 2017, from https://ghr.nlm.nih.gov/condition/tay-sachs-disease#genes

Tay-Sachs disease - NHS Choices. (2017). Nhs.uk. Retrieved 9 August 2017, from http://www.nhs.uk/conditions/Tay-Sachs-disease/Pages/Introduction.aspx

Wordpress. (2017). Chimmeral.files.wordpress.com. Retrieved 9 August 2017, from https://chimmeral.files.wordpress.com/2014/02/reflec9.png

]]> 2017-08-09 23:04:36 UTC https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180538426 The Organelle in which Tay-Sachs affects is the Lysosome keeganjmcdonald https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180538484 2017-08-09 23:05:28 UTC https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180538484 What is a Lysosome? keeganjmcdonald https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180538648 A lysosome is a special formed vacuole by the Golgi body. These special organelles contain powerful hydrolytic enzymes used to digest substances entering the cell or organelles that are of no further use to the cell. They are usually considered the stomach/recycling center of the cell. ]]> 2017-08-09 23:08:03 UTC https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180538648 Demonstration of how Tay-Sachs works within a cell keeganjmcdonald https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180539980 2017-08-09 23:23:58 UTC https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180539980 What is wrong with the lysosome? keeganjmcdonald https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180540214 A mutation in a child's HEXA gene causes Tay-Sachs. This particular gene is the gene that provides information in the creation of the enzyme called beta-hexosaminidase A (Hex-A). This enzyme plays a critical role in cells in the brain and spinal cord. The enzyme Hex-A is located in the lysosome, where the enzyme helps break down the specific fatty acid called GM2 ganglioside (GM2). The mutation in the HEXA gene causes Hex-A to be absent within the cell, therefore the cell will be unable to break down GM2, in turn the building up of GM2 will rise to toxic levels and eventually lead to the destruction of the cell. As said before, these cells that require the Hex-A enzymes are usually in the brain and spinal cord area, so the destruction of nervous system cells can cause major damage to the nervous system and the brain.(Diagram below) ]]> 2017-08-09 23:27:14 UTC https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180540214 Symptoms of Tay-Sachs keeganjmcdonald https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180540217 Symptoms of Tay-Sachs usually don't show up in children until they are around 3-6 months old. Because of the harming of the nervous system, the child affected with Tay-Sachs will begin to slowly lose the ability to move and start slowing down development. Some other symptoms of Tay-Sachs are, the loss of motor skills, an exaggerated startle reaction to loud noises, seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality that children with Tay-Sachs have is called a cherry-red spot, and can be identified through an eye examination. Children with severe Tay-Sachs only live to around 5 years of age, or early childhood.]]> 2017-08-09 23:27:16 UTC https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180540217 Prevalence of Disease keeganjmcdonald https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180540233 Tay-Sachs disease is a very rare disease in the general public, however it is documented that this disease is more common in people of the Ashkenazi Jewish Heritage. Some other groups of people who are affected more commonly are the French-Canadians of Quebec, the older Amish communities of Pennsylvania, and the Cajun Population of Louisiana. It is estimated that around 1 in  360,000 children are born with Tay-Sachs. Due to the fact that children with Tay-Sachs only live up to their early childhood, and that this disease is inherited, only children get Tay-Sachs. ]]> 2017-08-09 23:27:36 UTC https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180540233 Treatment? keeganjmcdonald https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180540248 There is no known cure for Tay-Sachs, so treatment consists of making the child as comfortable as possible by treating symptoms. Tay-Sachs is untreatable, however screening parents who are considering of starting a family can help in identifying the chances of a child to have Tay-Sachs. Tay-Sachs is inherited in an autosomal recessive pattern, which means that the two parents, which are both carriers of the disease, has a 25% chance that the child will be unaffected, 50% chance that their child will also be a carrier, meaning they carry the gene, but is unaffected by Tay-Sachs, and 25% of having Tay-Sachs. ]]> 2017-08-09 23:27:50 UTC https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180540248 Punnet Square of Tay-Sachs keeganjmcdonald https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180545586 2017-08-10 00:22:14 UTC https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180545586 Helpful Websites keeganjmcdonald https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180547214 https://ghr.nlm.nih.gov/condition/tay-sachs-disease#
http://www.nhs.uk/conditions/Tay-Sachs-disease/Pages/Introduction.aspx
https://www.genome.gov/10001220/learning-about-taysachs-disease/]]> 2017-08-10 00:39:39 UTC https://padlet.com/keeganjmcdonald/1c6en53r0ka2/wish/180547214