Tay-Sachs

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**Tay-Sachs  **   Ryan and Ben  media type="youtube" key="uZFa8g8OWZE" height="344" width="425"  <span style="background-color: rgb(104,175,212);">

<span style="background-color: rgb(104,175,212);"><span style="background-color: rgb(244,245,246);"><span style="background-color: rgb(104,175,212);"> What is Tay-Sachs disease?(2)
Tay-Sachs disease is a fatal genetic disorder. Tay-Sachs is a recessive disease which occurs because of a missing an enzyme called beta-hexosaminidase A. The child at first seems normal at birth but after a few months the child stops grasping for things and rolling around.This is because the child is becoming deaf, blind, and is also having muscle problems, due to the missing HEXA gene. The HEXA gene works in the lysosomes. It breaks down a lipid called ganglioside. When the lipids are not broken down they collect in the spinal cord and neurons in the brain. This causes deafness, blindness, and muscle problems. Death usually occurs at about one to two years of age.

What are the symptoms?(3)
<span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">Early symptoms of Tay-Sachs are...    <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">     <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">     <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">Later symptoms include...     <span style="background-color: rgb(104,175,212);"><span style="background-color: rgb(244,245,246);">  <span style="background-color: rgb(104,175,212);"><span style="background-color: rgb(244,245,246);">  <span style="background-color: rgb(104,175,212);"><span style="background-color: rgb(244,245,246);"> <span style="background-color: rgb(104,175,212);"><span style="background-color: rgb(244,245,246);">
 * <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">Seizures
 * <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">Noticeable behavior changes, such as the infant stops smiling, crawling or rolling over and loses the ability to grasp or reach out
 * <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">Increased startle reaction
 * <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">Decreased eye contact
 * <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">Listlessness
 * <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">Increasing irritability
 * <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">Slow body growth with increasing head size
 * <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">Delayed mental and social skills
 * <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">Feeding difficulties
 * <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">Abnormal body tone
 * <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;"> Loss of motor skills
 * <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">Blindness
 * <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">Deafness
 * <span style="font-size: 130%; font-family: 'Palatino Linotype', 'Book Antiqua', Palatino, serif;"><span style="font-family: 'Times New Roman', Times, serif;"><span style="font-size: 90%; font-family: Tahoma, Geneva, sans-serif;">Loss of intellectual skills

What is the treatment and prognosis?(3)
<span style="background-color: rgb(104,175,212);"><span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif; background-color: rgb(244,245,246);"> <span style="background-color: rgb(104,175,212);"><span style="background-color: rgb(244,245,246);"><span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;">There is no  <span style="background-color: rgb(104,175,212);"><span style="background-color: rgb(244,245,246);"><span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;"> from running its course. The only  <span style="background-color: rgb(104,175,212);"><span style="background-color: rgb(244,245,246);"><span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;">thing that doctors can   <span style="background-color: rgb(104,175,212);"><span style="background-color: rgb(244,245,246);"><span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;">do is make the child as comfortable   <span style="background-color: rgb(104,175,212);"><span style="background-color: rgb(244,245,246);"><span style="font-size: 120%; font-family: Tahoma, Geneva, sans-serif;">as possible. There is no cure or treatment for Tay-Sachs disease. The average lifespan is     <span style="background-color: rgb(104,175,212);"><span style="background-color: rgb(244,245,246);"><span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;">one to two years of age. <span style="background-color: rgb(104,175,212);"><span style="background-color: rgb(244,245,246);"> In mild cases a person can live into their twenties or thirties, although they will have    <span style="background-color: rgb(104,175,212);"><span style="background-color: rgb(244,245,246);">  mental handicaps that restrict him or her from some jobs. Doctors perform karyotypes and take HEXA tests to see if the child  has the enzyme. Different treatments can be used for different times  during the pregnancy. <span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;">(4)

**Chromosomal Defects**
<span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;"> <span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;">The HEXA gene is found in Chromosome 7. When a person has Tay-Sachs they are missing that enzyme. The enzyme breaks down a certain fat called ganglioside, this fat then builds up in the spinal cord and brain. It blocks many of the brains activities including seeing hearing and muscle coordination. The person will then probably die at a young age.

<span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;">Tay-Sachs disease is found most commonly in Ashkenazi Jews. It also found in the Cajun population of Louisiana, as well as some Inuit populations (Native Canadiens). One of the most interesting things is if you have the Tay-Sachs trait you are immune to Tuberculosis. Very few people get the disease. One in two hundred non-Ashkenazi Jews have the trait. One in twenty-five Ashkenazi Jews have the trait. <span style="font-size: 12pt; font-family: 'Times New Roman'; mso-fareast-font-family: 'Times New Roman'; mso-ansi-language: EN-US; mso-fareast-language: EN-US; mso-bidi-language: AR-SA;"><span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;"><span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;">      Tay-Sachs disease is a lethal genetic disease controlled by two alleles: the Tay-Sachs allele //T// and the normal allele //N//. Children who have the //TT// genotype suffer from mental deterioration, blindness, paralysis, and convulsions; and they die sometime between the ages of three and five years. If you had //TN// you would be a carrier, and if you had //NN// you would be normal.(6)

<span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;"> <span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;"><span style="font-size: 80%; font-family: Tahoma, Geneva, sans-serif;"><span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;">
 * <span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;"><span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;"><span style="font-size: 80%; font-family: Tahoma, Geneva, sans-serif;">in a heterozygous cross on a punnett square
 * <span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;"><span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;"><span style="font-size: 80%; font-family: Tahoma, Geneva, sans-serif;">25% were normal of Tay-Sachs
 * <span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;"><span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;"><span style="font-size: 80%; font-family: Tahoma, Geneva, sans-serif;">50% were carriers of Tay-Sachs
 * <span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;"><span style="font-size: 80%; font-family: Tahoma, Geneva, sans-serif;"><span style="font-size: 130%; font-family: Tahoma, Geneva, sans-serif;">25% had Tay-Sachs disease of Tay-Sachs

<span style="font-family: Tahoma, Geneva, sans-serif;">References
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[|Web link] ||< __http://ghr.nlm.nih.gov/condition=taysachsdisease__. 2 Jan. 2009. 9 Jan. 2009 <http://ghr.nlm.nih.gov/condition=taysachsdisease>.__ ||<  ||< 0 [|New] ||>  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Edit]  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Copy]  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Delete] <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">Parenthetical Reference <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Have a Question?] || [|Web link] ||< http://waynesword.palomar.edu/images/taysach1.gif__. 9 Jan. 2009 <http://waynesword.palomar.edu/images/taysach1.gif>. ||<  ||< 0 [|New] ||>  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Edit]  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Copy]  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Delete] <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">Parenthetical Reference <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Have a Question?] || [|Web link] ||< __http://www.mayoclinic.org/tay-sachs-disease/symptoms.html__. 9 Jan. 2009 <http://www.mayoclinic.org/tay-sachs-disease/symptoms.html>.__ ||<  ||< 0 [|New] ||>  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Edit]  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Copy]  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Delete] <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">Parenthetical Reference <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Have a Question?] || Web link ||< http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm__. 14 Feb. 2007. 9 Jan. 2009 <http:/www.ninds.nih.gov/disorders/taysachs/taysachs.htm>. ||<  ||< 0 [|New] ||>  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Edit]  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Copy]  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Delete] <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">Parenthetical Reference <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Have a Question?] || [|Web link] ||< __http://www.sciencemuseum.org.uk/on-line/genes/images/ 1-3-5-1-4-2-1-3-3-2-0.jpg__. 9 Jan. 2009 <http://www.sciencemuseum.org.uk/on-line/genes/images/ 1-3-5-1-4-2-1-3-3-2-0.jpg>. ||<  ||< 0 [|New] ||>  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Edit]  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Copy]  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Delete] <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">Parenthetical Reference <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Have a Question?] || [|Web link] ||< __http://www.wwnorton.com/college/anthro/evolve4/ch/03/ questions.shtml__ 2006. 12 Jan. 2009 <http://www.wwnorton.com/college/ anthro/evolve4/ch/03/questions.shtml>. ||<  ||< 0 [|New] ||>  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Edit]  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); font-weight: normal;">[|Copy]  <span class="smalltext" style="font-size: 10px; color: rgb(102, 102, 102); 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