Q+A

with Dr. Ya Hui Hung

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Understanding Niemann-Pick disease type C can be very complicated, so we sat down with our key researcher to learn more about her steps towards a treatment for NPC.

 

Study: 'Altered transition metal homeostasis in Niemann-Pick Disease, Type C1'.

Ya Hui Hung, Noel G. Faux, David W. Killilea, Nicole Yanjanin, Sally Firnkes, Irene Volitakis, George Ganio, Mark Walterfang, Caroline Hastings, Forbes D. Porter, Daniel S. Ory, and Ashley I. Bush

Steps towards a treatment for NPC

Why did you do this study?

What did you do?

What did you find?

What did this study tell us?

Earlier studies published by other groups showed a hint of altered biological metal regulation in NP-C. Biological metals such as copper, iron and zinc are vital to life. They have essential roles in functions such as brain development, oxygen transport, and activation of immune response. This is the first detailed study to map the changing biological metal landscape in NP-C.

We measured biological metal content in NP-C tissue and biological fluid samples using an inductively coupled plasma mass spectrometer. 
We determined blood and cerebrospinal fluid (CSF) ceruloplasmin activities by measuring changes in copper-bound, active ceruloplasmin levels and its enzyme activity.

  • An imbalance of a range of biological metals in tissues and biological fluids such as the brain, liver, heart and blood that came from NP-C patients and a mouse model of NP-C.

  • Human NP-C cerebrospinal fluid (CSF) has abnormally low levels of biological metals.

  • Abnormal ceruloplasmin activity.  Ceruloplasmin is a major copper-carrying protein in the blood.  It has an essential role in converting iron from toxic ferrous form to the non-toxic ferric form.

  • The presence of copper-bound, active ceruloplasmin in CSF from NP-C patients increases with disease severity.

NPC1, one of the proteins implicated in NP-C, may play a role in regulating biological metals. Targeting changes in biological metals in NP-C may be a useful treatment option.

 

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