Mutations in the smpd1 gene can lead to Niemann-Pick disease types A and B, characterized by the accumulation of sphingomyelin in lysosomes. This accumulation results in cellular dysfunction and manifests as neurodegeneration, hepatosplenomegaly, and pulmonary issues. From a toxicological perspective, these mutations illustrate how genetic predisposition can influence sensitivity to environmental toxins, potentially exacerbating disease symptoms.
