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Enzyme replacement therapy on hypophosphatasia mouse model.

Hirotaka Oikawa1, Shunji Tomatsu2, Bisong Haupt3

  • 1Growth, Development and Metabolism Program, Singapore Institute for Clinical Sciences, Wilmington, DE.

Journal of Inherited Metabolic Disease
|August 28, 2013
PubMed
Summary

Enzyme replacement therapy using tissue-nonspecific alkaline phosphatase (TNSALP) significantly improved survival and growth in a mouse model of hypophosphatasia (HPP). This therapy offers a potential treatment for HPP, a rare metabolic bone disorder.

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Hypophosphatasia (HPP) is an inherited metabolic disorder characterized by defective bone mineralization due to mutations in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP).
  • Accumulation of natural substrates like inorganic pyrophosphate (PPi) and pyridoxal 5-phosphate (PLP) contributes to HPP pathology.
  • Enzyme replacement therapy (ERT) using functional TNSALP is a potential therapeutic strategy for HPP.

Purpose of the Study:

  • To evaluate the long-term efficacy of enzyme replacement therapy (ERT) with human recombinant TNSALP in a mouse model of infantile hypophosphatasia (HPP).
  • To assess the impact of ERT on survival rates, growth, fertility, and skeletal manifestations in TNSALP-null mice (Akp2 (-/-)).

Main Methods:

  • TNSALP-null mice (Akp2 (-/-)) were treated from birth with human recombinant TNSALP and a vitamin B6 diet.
  • Long-term ERT involved subcutaneous or intravenous injections of TNSALP over a 6-month period.
  • Therapeutic effects were evaluated through survival rates, growth measurements, fertility assessments, and radiographic and pathological analyses of skeletal tissues.

Main Results:

  • Treated Akp2 (-/-) mice exhibited significantly improved survival rates, living beyond 6 months compared to untreated mice that died by 3 weeks.
  • ERT led to normal growth and fertility in the treated mice, with minimal skeletal abnormalities and absence of epilepsy.
  • Histological examination after 6 months revealed moderate hypomineralization and abnormal chondrocytes in growth plates and articular cartilage.

Conclusions:

  • Enzyme replacement therapy with human native TNSALP substantially improves clinical manifestations and survival in a mouse model of infantile hypophosphatasia.
  • Anchorless TNSALP ERT demonstrates potential as a viable therapeutic option for patients with hypophosphatasia.
  • Further research into TNSALP ERT could lead to improved treatment strategies for this debilitating metabolic bone disease.