niemann-pick type c disease and pbt2

Research Update from MHRI (via Yahoo)



MHRI's Professor Ashley Bush and Doctor Ya Hui Hung, together with Associate Professor Tony White from University of Melbourne were successful in obtaining funding from Perpetual to continue their research into lysosomal storage disorders such as Niemann-Pick type C disease, Batten disease and Alzheimer's disease.



Lysosomes are important cellular compartments for degradation, recycling and sorting of biological materials. Lysosomal storage diseases are neurodegenerative genetic disorders which are deficient in lysosomal functions, characterised by abnormal accumulation of materials in lysosomes. Clinical presentations include vision, motor and cognitive impairments.



These disorders affect primarily young children who face limited life expectancy and lifelong disabilities. Current therapies mainly target to reduce the abnormal build up of materials in lysosomes, and offer limited efficacy. Altered metal metabolism with loss of lysosomal functions is also a feature of major neurodegenerative disorders such as Alzheimer's disease (AD).



We have previously demonstrated that drugs which can mobilise metals show great promise as disease modifying therapy for AD. Recently we discovered, similar to AD, brain zinc imbalance in two lysosomal storage disorders, Niemann-Pick type C disease (NP-C) and Batten disease, which have toxic lysosomal accumulation of fatty substances.



This research project aims to capitalise on these discoveries and target zinc as a new approach to develop novel therapy for lysosomal storage disorders. We will evaluate zinc manoeuvring drugs such as PBT2 for their potential to improve lifespan, motor and cognitive performance, metal balance and normalise lysosomal accumulation of fatty materials.

http://www.mhri.edu.au/news-detail/title/Research%20Update