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Protein misfolding diseases: Prospects of pharmacological treatment

A Gámez1, P Yuste-Checa1, S Brasil1

  • 1Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid/Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Investigación Sanitaria IdiPAZ, Madrid, Spain.

Clinical Genetics
|July 4, 2017
PubMed

Insights

Small molecules can rescue misfolded proteins, offering potential treatments for inherited diseases like phosphomannomutase 2 deficiency (PMM2-CDG), a type of congenital disorder of glycosylation (CDG). This approach targets protein destabilization caused by genetic mutations.

Area of Science:

  • Biochemistry
  • Genetics
  • Pharmacology

Background:

  • Protein misfolding is implicated in various inherited genetic diseases.
  • Mutations can destabilize proteins, altering their function and cellular localization.
  • Misfolded proteins can potentially be corrected using proteostasis regulators and pharmacological chaperones.

Purpose of the Study:

  • To explore the therapeutic potential of small molecules for genetic diseases caused by protein misfolding.
  • To investigate the application of small molecule therapeutics for phosphomannomutase 2 deficiency (PMM2-CDG).

Main Methods:

  • Review of existing literature on protein misfolding and therapeutic strategies.
  • Analysis of the role of proteostasis regulators and pharmacological chaperones.
  • Case study on PMM2-CDG as a model for small molecule intervention.

Main Results:

  • Small molecules show promise in rescuing destabilized proteins.
  • Proteostasis regulators and pharmacological chaperones are viable therapeutic avenues.
  • PMM2-CDG presents a specific target for small molecule-based treatments.

Conclusions:

  • Small molecule therapeutics offer a potential treatment strategy for a range of genetic disorders.
  • Targeting protein misfolding with small molecules could revolutionize treatment for diseases like PMM2-CDG.
  • Further research into small molecule interventions is warranted for inherited diseases.
Keywords:
conformational diseasescongenital disorders of glycosylationinborn errors of metabolismmisfolding diseasespharmacological chaperonesprotein foldingproteostasis regulators

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