What are the Cellular and Molecular Mechanisms Involved?
The pathogenesis of MLD is rooted in the deficiency of the enzyme arylsulfatase A. This enzyme is responsible for breaking down sulfatides, a type of lipid found in myelin. When arylsulfatase A is deficient, sulfatides accumulate within the cells, leading to the following: 1. Cellular Toxicity: Excess sulfatides disrupt normal cell function, leading to cell death and demyelination.
2. Inflammatory Response: The accumulation of sulfatides triggers an inflammatory response, further exacerbating tissue damage.
3. Myelin Breakdown: The disruption in lipid metabolism directly affects the integrity of the myelin sheath, leading to its progressive breakdown.
