Israeli scientists offering hope against ‘Ashkenazi disease’
A group of scientists at the Weizmann Institute have discovered a new cellular pathway implicated in Gaucher disease, with the findings published in Nature Medicine this week.
Breakthrough work on the genetic disorder, which is most prevalent among the Ashkenazi Jewish population, may offer a new therapeutic target for the management of this disease, as well as other related disorders.
Little is known about Gaucher disease, which causes brain damage and inflammation in severe cases, including what exactly causes such a massive loss of nerve cells in Types 2 and 3.
But a protein ominously named RIP3 was recently found to be instrumental in this, leading Dr. Einat Vitner and student Ran Salomon – using the facilities of Prof. Tony Futerman – induced the disease in mice possessing RIP3 and mice without.
In mice lacking the protein, they found a significant improvement in motor coordination and brain pathology, and improved liver and spleen function. Their lifespan was increased from 35 days to more than 170 days.
Vitner said: “These results are exciting, as they suggest a plausible new target for therapeutic intervention for all types of Gaucher disease; they have the potential, in the future, to greatly improve the patients’ quality of life.”
Futerman added: “These results may also have implications in other neurodegenerative diseases, including related diseases such as Krabbe disease, and potentially other devastating brain diseases.”
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