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Protein Kinases and Phosphatases02:54

Protein Kinases and Phosphatases

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Proteins undergo chemical modifications that trigger changes in the charge, structure, and conformation of the proteins. Phosphorylation, acetylation, glycosylation, nitrosylation, ubiquitination, lipidation, methylation, and proteolysis are various protein modifications that regulate protein activity. Such modifications are usually enzyme-driven.
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Unlike carbon, water, and nitrogen, phosphorus is not present in the atmosphere as a gas. Instead, most phosphorus in the ecosystem exists as compounds, such as phosphate ions (PO43-), found in soil, water, sediment and rocks. Phosphorus is often a limiting nutrient (i.e., in short supply). Consequently, phosphorus is added to most agricultural fertilizers, which can cause environmental problems related to runoff in aquatic ecosystems.
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Hypophosphatasia: An overview For 2017.

Michael P Whyte1

  • 1Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, Missouri, USA.

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Summary

Hypophosphatasia (HPP) is an inborn error of metabolism causing low alkaline phosphatase activity due to gene mutations. Elevated vitamin B6 metabolites and pyrophosphate accumulation lead to skeletal and dental issues, with new treatments showing promise.

Keywords:
Alkaline phosphataseHypophosphatasiaInorganic pyrophosphateOsteomalaciaRickets

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Hypophosphatasia (HPP) is an inherited metabolic disorder characterized by low serum alkaline phosphatase (ALP) activity.
  • It results from loss-of-function mutations in the gene encoding tissue-nonspecific ALP (TNSALP), leading to substrate accumulation like inorganic pyrophosphate (PPi).
  • This accumulation impairs mineralization, causing skeletal and dental complications.

Purpose of the Study:

  • To summarize the pathophysiology, clinical manifestations, and diagnostic markers of Hypophosphatasia.
  • To highlight the genetic basis and inheritance patterns of HPP.
  • To discuss the emergence of novel therapeutic strategies for HPP.

Main Methods:

  • Review of literature on Hypophosphatasia.
  • Analysis of genetic mutations in TNSALP (ALPL).
  • Biochemical marker identification (e.g., PLP, PPi).

Main Results:

  • Over 300 TNSALP mutations identified, explaining HPP's variable severity.
  • Elevated serum pyridoxal 5'-phosphate (PLP) is a sensitive and specific biomarker for HPP.
  • Accumulated PPi causes defective bone and tooth mineralization, rickets, osteomalacia, and arthropathies.
  • Severe infantile HPP can lead to hypercalcemia and pyridoxine-dependent seizures.
  • Asfotase alfa, a recombinant TNSALP, demonstrates significant success in treating severe pediatric HPP.

Conclusions:

  • HPP is a severe genetic disorder with significant skeletal manifestations.
  • Biochemical markers like elevated PLP aid in HPP diagnosis.
  • Genetic analysis is crucial for recurrence risk and prenatal diagnosis.
  • Asfotase alfa represents a breakthrough treatment for pediatric HPP, approved since 2015.