CDG therapies: From bench to bedside

Sandra Brasil, Carlota Pascoal, Rita Francisco, Dorinda Marques-da-Silva, Giuseppina Andreotti, Paula A. Videira, Eva Morava-Kozicz, Jaak Jaeken, Vanessa Dos Reis Ferreira

Research output: Contribution to journalReview article

21 Scopus citations

Abstract

Congenital disorders of glycosylation (CDG) are a group of genetic disorders that affect protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 100 different disorders have been reported and the number is rapidly increasing. Since glycosylation is an essential post-translational process, patients present a large range of symptoms and variable phenotypes, from very mild to extremely severe. Only for few CDG, potentially curative therapies are being used, including dietary supplementation (e.g., galactose for PGM1-CDG, fucose for SLC35C1-CDG, Mn2+ for TMEM165-CDG or mannose for MPI-CDG) and organ transplantation (e.g., liver for MPI-CDG and heart for DOLK-CDG). However, for the majority of patients, only symptomatic and preventive treatments are in use. This constitutes a burden for patients, care-givers and ultimately the healthcare system. Innovative diagnostic approaches, in vitro and in vivo models and novel biomarkers have been developed that can lead to novel therapeutic avenues aiming to ameliorate the patients’ symptoms and lives. This review summarizes the advances in therapeutic approaches for CDG.

Original languageEnglish (US)
Article number1304
JournalInternational Journal of Molecular Sciences
Volume19
Issue number5
DOIs
StatePublished - May 1 2018

Keywords

  • Animal models
  • Biomarkers
  • Clinical trials
  • Congenital disorders of glycosylation (CDG)
  • Diagnosis
  • Dietary supplementation
  • Galactose
  • Mannose
  • Pharmacological chaperones
  • Therapy

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry

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    Brasil, S., Pascoal, C., Francisco, R., Marques-da-Silva, D., Andreotti, G., Videira, P. A., Morava-Kozicz, E., Jaeken, J., & Dos Reis Ferreira, V. (2018). CDG therapies: From bench to bedside. International Journal of Molecular Sciences, 19(5), [1304]. https://doi.org/10.3390/ijms19051304