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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Jan Lukas1, Anne-Marie Knospe2, Susanne Seemann2

  • 1Albrecht-Kossel-Institute, University Rostock Medical Center; jan.lukas@med.uni-rostock.de.

Journal of Visualized Experiments : Jove
|December 30, 2017
PubMed

Insights

Developing a cell culture assay aids in personalized medicine for rare genetic diseases like Fabry and Pompe disease. This method rapidly assesses mutations, identifying patients eligible for Pharmacological Chaperone Therapy (PCT).

Area of Science:

  • Biochemistry
  • Genetics
  • Pharmacology

Background:

  • Personalized medicine for rare monogenic diseases, such as lysosomal storage disorders (LSDs), faces challenges including complex clinical trials and limited patient populations.
  • Hundreds of mutant alleles contribute to LSDs, often classified by clinical severity, necessitating precise molecular characterization for outcome prediction and patient management.

Purpose of the Study:

  • To develop a simplified cell culture assay for rapid phenotypic assessment of disease-causing mutations.
  • To identify patients eligible for Pharmacological Chaperone Therapy (PCT) in Fabry and Pompe diseases.
  • To support the development of novel pharmacochaperones for LSDs.

Main Methods:

  • Established a cell culture assay using HEK293H cells engineered to over-express specific mutations found in Fabry and Pompe diseases.
  • The assay facilitates rapid phenotypic evaluation of allelic variants.

Main Results:

  • The developed assay enables quick assessment of mutation phenotypes in cell cultures.
  • This approach can identify suitable mutations for Pharmacological Chaperone Therapy (PCT).

Conclusions:

  • The amended cell culture assay provides a rapid method for evaluating allelic variants in Fabry and Pompe diseases.
  • This assay can identify patients eligible for PCT and assist in developing new pharmacochaperones for rare genetic disorders.

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