Genetic Disorder by https://padlet.com/breanna_scott1/ls2x2n0fvljy Made with a wish on a star en-us 2016-11-18 13:31:43 UTC 2024-05-06 02:14:51 UTC hello@padlet.com https://padlet-assets.s3.amazonaws.com/icons/Apple.png Tay-Sachs Disease breanna_scott1 https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138683276 By: Bre Scott and Callie Carder ]]> 2016-11-18 13:33:51 UTC https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138683276 Definition breanna_scott1 https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138683504 -A rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord]]> 2016-11-18 13:34:43 UTC https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138683504 What happens to the body? breanna_scott1 https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138683770 -The body lacks hexosaminidase A (HEX A), a protein that helps break down a group of chemicals found in nerve tissue called gangliosides (GM2). Without HEX A the gangliosides build up, destroying brain cells ]]> 2016-11-18 13:35:34 UTC https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138683770 What part of the body does it affect? breanna_scott1 https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138684495 -Brain and spinal cord]]> 2016-11-18 13:38:04 UTC https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138684495 Symptoms breanna_scott1 https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138684785 -seizures
-blindness
-deafness
-paralysis
-slow growth 
-dementia]]> 2016-11-18 13:39:02 UTC https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138684785 What happens in the body to cause the disease? breanna_scott1 https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138685109 -GM2 is supposed to enter the HEX A and when there is a lack of HEX A the GM2 increases, killing the cell and gradually shutting down the central nervous system ]]> 2016-11-18 13:40:12 UTC https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138685109 Is it a mutation? A genetic tendency triggered by other factors? breanna_scott1 https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138685528 -There is a mutation in the HEX A that causes the disease. The HEX A enzyme is located in the lysosomes, which are structures in the cell that break down toxic substances. As a result of the mutation, the GM2 accumulates to toxic levels in neurons ]]> 2016-11-18 13:41:47 UTC https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138685528 How is the disorder inherited? Is it sex linked? breanna_scott1 https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138686431 -No
-Tay-sachs disease is an autosomal recessive condition, which means two copies of an abnormal gene must be present in order for the disease to develop.]]> 2016-11-18 13:45:00 UTC https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138686431 Is there a particular chromosome it is located on? breanna_scott1 https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138686949 -Yes, this diseases is caused by a gene located on chromosome 15]]> 2016-11-18 13:46:44 UTC https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138686949 Is it recessive or dominant? breanna_scott1 https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138687280 -It is a recessive genetic disorder, when both parents are carriers, there is a 25% risk of giving birth to an affected child with each pregnancy ]]> 2016-11-18 13:47:45 UTC https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138687280 How is the disorder treated? breanna_scott1 https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138687672 -There is no cure for the disease. Gene therapy or enzyme replacement therapy research may eventually lead to a cure or treatment to slow the progression of the disease ]]> 2016-11-18 13:48:58 UTC https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138687672 How is the disorder diagnosed? breanna_scott1 https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138688220 -Blood tests can be done to check if the body is producing the HEX A enzyme]]> 2016-11-18 13:50:25 UTC https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138688220 Is it more common in a certain group of people? breanna_scott1 https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138688975 -Yes, it's very common in Ashkenaz and Jews]]> 2016-11-18 13:52:35 UTC https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138688975 How common is it? breanna_scott1 https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138689248 -1 in 27 Jews]]> 2016-11-18 13:53:19 UTC https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138689248 Jews. breanna_scott1 https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138691829 2016-11-18 14:00:25 UTC https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138691829 Nerve Cell breanna_scott1 https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138692522 2016-11-18 14:02:21 UTC https://padlet.com/breanna_scott1/ls2x2n0fvljy/wish/138692522