Tay-Sachs disease

A paper by Jack Felice Stavish period 9

Introduction

Tay-Sachs Disease is a fairly uncommon genetic disorder discovered by Dr. Tay and Dr. Sachs. Two of its three forms cause premature death, and have no known treatment, only ways to lessen some of the symptoms. In the womb, babies can be tested to see if they will suffer from this disease.

Symptoms/side effects of Tay-Sachs

What causes Tay-Sachs disease? How do you inherit it?

Tay-sachs disease is a recessive single gene mutation on chromosome #15. It is caused by a lack of an enzyme, beta-hexosaminidase. Beta-hexosaminidase usually breaks down a fatty lipid on nerve cells, ganglioside (GM2). However, due to its absence, ganglioside builds up, encasing nerve cells and affecting the brain's ability to function properly.

How often does Tay-Sachs Occur? Do some groups have a higher carrier rate than others?

For the general population, the carrier rate of Tay-Sachs is 1/250 people. This basically means that for every 250 people, 1 person is a carrier of the disease. With this being said, groups that include a higher concentration of carriers are Ashkenazi Jews, Louisiana Cajuns, and French Canadians, all with a carrier rate of 1/27; and those of Irish or British Isle descent, with a carrier rate of 1/50-1/150.

Is there any way to prevent or deal with Tay-Sachs?

Currently, the only known way to ensure your child will not suffer from Tay-Sachs is to not have a chid. There are no current treatments for the disease, although there are some ways to help with the symptoms, such as: providing sufficient nutrition and hydration; fending the airway from being blocked; and seizure management.

Are there any different forms of the disease?

There are three different forms of Tay-Sachs disease: Infantile-onset, which causes death usually by the age of 5; Juvenile-onset, which usually causes death in late childhood/adolescence; or Adult-onset, where cases have been reported to live up to 60 years old.