What organelle is primarily affected in Tay-Sachs disease?

Tay-Sachs disease primarily affects lysosomes, which are organelles responsible for breaking down waste materials and cellular debris. In this genetic disorder, a specific enzyme known as hexosaminidase A (Hex-A) is deficient or absent. This enzyme is crucial for the breakdown of a lipid called GM2 ganglioside in the lysosomes. Without adequate levels of this enzyme, GM2 gangliosides accumulate to toxic levels, particularly in nerve cells.

As a result of this accumulation, the normal recycling and degradation processes within the cell are disrupted, leading to severe neurological damage and the characteristic symptoms of Tay-Sachs disease, such as developmental delays and loss of motor skills. Understanding the role of lysosomes and their enzymes is critical in explaining the pathophysiology of Tay-Sachs and similar lysosomal storage disorders.