Gene Therapy

Findings from Sanford Burnham Medical Research Institute Advance Knowledge in Gene Therapy

Published in Gene Therapy Weekly, January 12th, 2012

2012 JAN 12 -- According to the authors of a study from La Jolla, California, "Hypophosphatasia (HPP) is an inherited disease caused by a deficiency of tissue-nonspecific alkaline phosphatase (TNALP). The major symptom of human HPP is hypomineralization, rickets, or osteomalacia, although the clinical severity is highly variable."

"The phenotypes of TNALP knockout (Akp2(-/-)) mice mimic those of the severe infantile form of HPP. Akp2(-/-) mice appear normal at birth, but they develop growth failure, epileptic seizures, and hypomineralization and die by 20 days of age. Previously, we have shown that the phenotype of Akp2(-/-) mice can be prevented by enzyme...

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Source: Gene Therapy Weekly (2012-01-12)

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