Primary hyperoxaluria mouse model and gene therapy.
Proc Natl Acad Sci U S A. 2006 Nov 28;103(48):18249-54.
Alanine-glyoxylate aminotransferase-deficient mice, a model for primary
hyperoxaluria that responds to adenoviral gene transfer.
Salido EC, Li XM, Lu Y, Wang X, Santana A, Roy-Chowdhury N, Torres A, Shapiro
LJ, Roy-Chowdhury J.
In this important PNAS paper, the authors describe the creation of a mouse model for primary hyperoxaluria type 1. They also provide a proof of concept for liver directed gene therapy of primary hyperoxaluria using an adenoviral vector. However, I would have liked to see if the vector-treated mice were protected against ethylene glycol induced nephrocalcinosis.
For more information on primary hyperoxaluria, you can refer to chapter 133 of OMMBID.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator