Thursday, February 13, 2014
therapies are highly effective for most patients with Gaucher's disease but do
little for those with the neurological childhood forms of the disease. Now, an
Israeli and U.K. team has unlocked the mechanism of nerve destruction in
neuronopathic Gaucher's disease and identified receptor-interacting serine-threonine kinase 3
as a new target.1
two mouse models of neuronopathic Gaucher's disease, the researchers found that
the disease was not caused by apoptosis of neurons but by a different,
less-extensively studied process called necroptosis.
According to Neil Weinreb, the paper represents a
conceptual breakthrough for neuronopathic Gaucher's disease. "The key
question for the field has been how the process of storing lipids in Gaucher's
causes cell death. This paper gets to the heart of that," he told SciBX.
"If you can block the storage of lipids in lysosomes and neutralize their
activity, that would be very good. This is the first major step in that
Fishburn, C.S. SciBX 7(6);
doi:10.1038/scibx.2014.161 Published online Feb. 13, 2014
1. Vitner, E.B. et al.
Nat. Med.; published online Jan. 19, 2014; doi:10.1038/nm.3449 Contact:
Anthony H. Futerman, Weizmann Institute of Science, Rehovot, Israel e-mail: email@example.com
AND INSTITUTIONS MENTIONED
Children's Gaucher Research Fund, Granite Bay, Calif.
National Gaucher Foundation Inc., Tucker, Ga.
Sanofi (Euronext:SAN; NYSE:SNY), Paris, France
Shire plc (LSE:SHP;
NASDAQ:SHPG), Dublin, Ireland
University of Cambridge, Cambridge, U.K.
University of Oxford, Oxford, U.K.
Weizmann Institute of Science, Rehovot, Israel
Yeda Research and Development Company Ltd., Rehovot, Israel