Answer :
To illustrate how a DNA mutation is connected to Gaucher disease symptoms:
1. A mutation occurs in the GBA gene, leading to a dysfunctional beta-glucocerebrosidase enzyme, which is responsible for breaking down glucocerebroside.
2. Due to the dysfunctional enzyme, there is an increase in glucocerebroside, a fatty substance, within the cells.
3. The accumulation of glucocerebroside causes cells to become enlarged as a result of the fatty buildup.
4. These enlarged cells, known as Gaucher cells, start to accumulate and displace normal cells in various tissues and organs, disrupting their normal function.
5. This disruption leads to the manifestation of Gaucher disease symptoms such as an enlarged liver, impaired nervous system, anemia, and other associated complications.
By understanding this sequence of cellular events, we can see how a DNA mutation in the GBA gene ultimately leads to the symptoms and effects observed in individuals with Gaucher disease.
1. A mutation occurs in the GBA gene, leading to a dysfunctional beta-glucocerebrosidase enzyme, which is responsible for breaking down glucocerebroside.
2. Due to the dysfunctional enzyme, there is an increase in glucocerebroside, a fatty substance, within the cells.
3. The accumulation of glucocerebroside causes cells to become enlarged as a result of the fatty buildup.
4. These enlarged cells, known as Gaucher cells, start to accumulate and displace normal cells in various tissues and organs, disrupting their normal function.
5. This disruption leads to the manifestation of Gaucher disease symptoms such as an enlarged liver, impaired nervous system, anemia, and other associated complications.
By understanding this sequence of cellular events, we can see how a DNA mutation in the GBA gene ultimately leads to the symptoms and effects observed in individuals with Gaucher disease.
