Human iPSC From Fibroblast-Niemann-Pick Disease, Type B

Frequently Asked Questions

• What is the similarities and differences between Niemann-Pick Disease, Type A and Type B?

  Both Type A and Type B Niemann-Pick Disease are lysosomal storage disorders (LSDs) caused by mutations in the SMPD1 gene, resulting in a deficiency in acid sphingomyelinase (ASM) function. This deficiency leads to the abnormal accumulation of sphingomyelin in lysosomes.

  Type B: Caused by SMPD1 mutations, but it presents a partial deficiency of the enzyme. The disease primarily affects the non-CNS tissues, and patients generally experience a slower progression compared to Type A. Type B is suitable for studying lipid storage and metabolic disorders, but the Type A model remains preferred for studying classical LSD mechanisms.

  Type A: Also caused by mutations in the SMPD1 gene resulting in a severe deficiency of acid sphingomyelinase. Patients typically experience early onset, rapid progression, and severe central nervous system (CNS) involvement, with significant sphingomyelin accumulation in various cell types. This aligns with the clinical and cytological features of classic lysosomal storage disorders. If your research focuses on studying the pathological mechanisms of LSDs or drug screening, the Type A iPSC model is recommended.