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Novel treatment strengthens bones in genetic disease neurofibromatosis type-1
Date:8/14/2014

n called hyperosteoidosis.

They have now discovered that hyperosteoidosis in the mice is caused by accumulation of the molecule pyrophosphate, a strong inhibitor of bone mineralization. They found that in the absence of neurofibromin, the expression of certain genes is upregulated. These include genes that enable increased production and transport of pyrophosphate and a gene that prevents calcium and phosphate from depositing on collagen fibers.

In addition, the bone-forming cells fail to differentiate (mature) into "proper tenure-track osteoblasts," Elefteriou said, which means the cells don't produce alkaline phosphatase, the enzyme that normally breaks down pyrophosphate.

"That's a fourth factor preventing mineralization and the formation of new good bone," he said.

The investigators decided to try clearing the accumulated pyrophosphate by treating the mice with asfotase-alpha, an engineered form of alkaline phosphatase.

Asfotase-alpha is currently in clinical trials for hypophosphatasia, another rare genetic disease affecting bone formation.

They found that asfotase-alpha treatment improved bone mass, mineralization and bone mechanical properties in the mouse model of NF1.

"This could be a drug that would prevent fractures and help these kids pass through the early rapid growth period and reach the point where they aren't as likely to fracture the bone," Elefteriou said.

To explore whether the molecular pathology of the disease is the same in humans as in the mouse model, the researchers studied pseudoarthrosis tissue biopsies from patients with NF1. They found that the gene that promotes pyrophosphate synthesis is upregulated, suggesting a similar molecular pathology and supporting the notion that asfotase-alpha may be a successful treatment in patients.

There's much work to be done first, Elefteriou cautions. He notes that although the enzyme therapy corrects the functional defect of pyrophosp
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Contact: Leigh MacMillan
leigh.macmillan@vanderbilt.edu
615-322-4747
Vanderbilt University Medical Center
Source:Eurekalert  

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