Niemannâ€“Pick disease is caused by acid sphingomyelinase deficiency. It has be shown that HSP70 binds to an endolysosomal anionic phospholipid, bis(monoacylglycero)phosphate (BMP). This facilitates the activity of activity of acid sphingomyelinase, and thus stabilizes lysosomes. It is hypothesized that recombinant HSP70 could be beneficial alone or in combination with recombinant Â acid sphingomyelinase to treat Niemannâ€“Pick disease, since it improved findings in fibroblasts from patients (Kirkegaard et al., 2010, Nature, 463:549-53).
Posted by Philippe Campeau, MD