Tay-Sachs Disease
Creative Title:
Tay-Sachs, the saddest of diseases
Introduction:
Tay-Sachs disease (TSD) is a genetic condition affecting male and female infants. The life expectancy of children with TSD is just 3-4 years old. Unfortunately, it is always fatal and there no known cure.
What is the cause of the disease and how is it inherited?
Tay-Sachs disease is hereditary, meaning it is inherited from family members.
TSD is the result of an autosomal recessive gene, meaning, meaning that two copies of an abnormal gene must be present for the disease to develop. In TSD, the two copies must come from the mother and the father.
The faulty gene is most common in Jewish people from central and Eastern Europe (Ashkenazi Jews) and French-Canadians. Approximately one in 30 Ashkenazi Jews and one in 40 French-Canadians are genetic carriers of the faulty gene. However, people of other nationalities can carry the condition.q …show more content…
In TSD, a faulty gene affects chromosome 15.
Cells of the nervous system (neurones), including brain and spinal cord, need an enzyme called B-Hexosaminidase A (HexA) to break down a fatty substance called GN12 ganglioside. This enzyme helps babies develop vision, hearing, and other vital functions.
In children with Tay-Sachs disease, a faulty gene on chromosome 15 (HexA) causes the body to not produce the enzyme B-Hexosaminidase A. This means that the fatty substance (ganglioside) builds up in the brain and spinal cord, significantly damaging brain cells and therefore resulting in death.
The genes in our cells are in pairs because we inherit a set from both of our parents.
A person can be a carrier of the faulty gene (a genetic carrier for TSD) if they have inherited a working HexA gene copy from one parent and a faulty HexA gene copy from the other parent. However, carriers with just one faulty HexA gene copy will never develop
Tay-Sachs, the saddest of diseases
Introduction:
Tay-Sachs disease (TSD) is a genetic condition affecting male and female infants. The life expectancy of children with TSD is just 3-4 years old. Unfortunately, it is always fatal and there no known cure.
What is the cause of the disease and how is it inherited?
Tay-Sachs disease is hereditary, meaning it is inherited from family members.
TSD is the result of an autosomal recessive gene, meaning, meaning that two copies of an abnormal gene must be present for the disease to develop. In TSD, the two copies must come from the mother and the father.
The faulty gene is most common in Jewish people from central and Eastern Europe (Ashkenazi Jews) and French-Canadians. Approximately one in 30 Ashkenazi Jews and one in 40 French-Canadians are genetic carriers of the faulty gene. However, people of other nationalities can carry the condition.q …show more content…
In TSD, a faulty gene affects chromosome 15.
Cells of the nervous system (neurones), including brain and spinal cord, need an enzyme called B-Hexosaminidase A (HexA) to break down a fatty substance called GN12 ganglioside. This enzyme helps babies develop vision, hearing, and other vital functions.
In children with Tay-Sachs disease, a faulty gene on chromosome 15 (HexA) causes the body to not produce the enzyme B-Hexosaminidase A. This means that the fatty substance (ganglioside) builds up in the brain and spinal cord, significantly damaging brain cells and therefore resulting in death.
The genes in our cells are in pairs because we inherit a set from both of our parents.
A person can be a carrier of the faulty gene (a genetic carrier for TSD) if they have inherited a working HexA gene copy from one parent and a faulty HexA gene copy from the other parent. However, carriers with just one faulty HexA gene copy will never develop