Tay-Sachs Disease
Tay-Sachs Disease
Tay-Sachs disease is a rare inherited autosomal recessive disorder first discovered in 1881. It is a disease that is found in many populations, but commonly affects the populations of the Ashkenazi Jews. The disorder is caused when there is an absence of enzyme called beta hexosaminase A that is found on chromosome 15. The most common mutation occurs in mostly 80 percent of Tay-Sachs patients is the four base pair addition (TATC) on exon 11 and a G to C inversion at the splice junction of intron 12 which leads to a miss spliced and causes the messenger RNA to be unstable; and a G to A inversion on exon 7 of the hexosaminase A gene. The insertion of this base pair causes the codon to stop early which then causes a hexosaminase A deficiency (Amos Frisch). Tay-Sachs is a lethal disease.
Tay-Sachs disease was first discovered in 1881. The man who discovered this genetic disorder was an ophthalmologist named Warren Tay, whom lived 1843-1947. He is most renowned for the discovery in his research of Tay-Sachs and the appearance of a “cherry-red spot” on the retina in the eyes of those infected with the disease. This is where the “Tay” in Tay-Sachs comes from. The “Sachs” in Tay-Sachs …show more content…
Scientists theorize the gene mutation can be traced back to a French couple from the 1700s based off genetic samples. Because of Tay-Sachs prevalence in the Jewish population, concerns have lead to something positive. Israel had become the first country to offer free genetic testing to citizens. Also, in 1969 the National Tay-Sachs and Allied Disease Association of Delaware Valley was established to bring more of the Jewish-American population into awareness for the disease, as well as offer help to families suffering from the tragedies of this fatal
Tay-Sachs disease is a rare inherited autosomal recessive disorder first discovered in 1881. It is a disease that is found in many populations, but commonly affects the populations of the Ashkenazi Jews. The disorder is caused when there is an absence of enzyme called beta hexosaminase A that is found on chromosome 15. The most common mutation occurs in mostly 80 percent of Tay-Sachs patients is the four base pair addition (TATC) on exon 11 and a G to C inversion at the splice junction of intron 12 which leads to a miss spliced and causes the messenger RNA to be unstable; and a G to A inversion on exon 7 of the hexosaminase A gene. The insertion of this base pair causes the codon to stop early which then causes a hexosaminase A deficiency (Amos Frisch). Tay-Sachs is a lethal disease.
Tay-Sachs disease was first discovered in 1881. The man who discovered this genetic disorder was an ophthalmologist named Warren Tay, whom lived 1843-1947. He is most renowned for the discovery in his research of Tay-Sachs and the appearance of a “cherry-red spot” on the retina in the eyes of those infected with the disease. This is where the “Tay” in Tay-Sachs comes from. The “Sachs” in Tay-Sachs …show more content…
Scientists theorize the gene mutation can be traced back to a French couple from the 1700s based off genetic samples. Because of Tay-Sachs prevalence in the Jewish population, concerns have lead to something positive. Israel had become the first country to offer free genetic testing to citizens. Also, in 1969 the National Tay-Sachs and Allied Disease Association of Delaware Valley was established to bring more of the Jewish-American population into awareness for the disease, as well as offer help to families suffering from the tragedies of this fatal