Which cell process leads to the buildup of toxic lipids inside the cell in Tay-Sachs disease?

In Tay-Sachs disease, the underlying problem is related to a deficiency in a specific enzyme called Hexosaminidase A (Hex-A). This enzyme is crucial for the breakdown of GM2 gangliosides, which are types of lipids found in nerve cells. When the enzymatic function is inhibited due to genetic mutations, the GM2 gangliosides accumulate to toxic levels within the cells, particularly in brain neurons.

The process that leads to this toxic buildup is not a normal cellular process like endocytosis, apoptosis, or active transport, but rather the failure of the enzymatic degradation pathway. Without the activity of Hex-A, the normal degradation of GM2 gangliosides is interrupted, leading to their accumulation and subsequent toxicity to the neurons. This accumulation disrupts normal cell function and ultimately contributes to the neurological symptoms observed in those with Tay-Sachs disease.

Understanding this condition highlights the importance of enzymatic processes in cellular metabolism and the consequences that arise when these processes are not functioning correctly.