CDG therapies: from bench to bedside

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

Research output: Contribution to journalReview article

15 Citations (Scopus)

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
Article number1304
JournalInternational Journal of Molecular Sciences
Volume19
Issue number5
DOIs
Publication statusPublished - 1 May 2018

Fingerprint

Congenital Disorders of Glycosylation
Glycosylation
seats
therapy
disorders
Therapeutics
Glycosylphosphatidylinositols
Inborn Genetic Diseases
Fucose
Transplantation (surgical)
galactose
Organ Transplantation
transplantation
Mannose
Dietary Supplements
Galactose
phenotype
biomarkers
Caregivers
Biomarkers

Keywords

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

Cite this

Brasil, S., Pascoal, C., Francisco, R., Marques-da-Silva, D., Andreotti, G., Videira, P. A., ... 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
Brasil, Sandra ; Pascoal, Carlota ; Francisco, Rita ; Marques-da-Silva, Dorinda ; Andreotti, Giuseppina ; Videira, Paula A. ; Morava, Eva ; Jaeken, Jaak ; Dos Reis Ferreira, Vanessa. / CDG therapies: from bench to bedside. In: International Journal of Molecular Sciences. 2018 ; Vol. 19, No. 5.
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Brasil, S, Pascoal, C, Francisco, R, Marques-da-Silva, D, Andreotti, G, Videira, PA, Morava, E, Jaeken, J & Dos Reis Ferreira, V 2018, 'CDG therapies: from bench to bedside', International Journal of Molecular Sciences, vol. 19, no. 5, 1304. https://doi.org/10.3390/ijms19051304

CDG therapies: from bench to bedside. / Brasil, Sandra; Pascoal, Carlota; Francisco, Rita; Marques-da-Silva, Dorinda; Andreotti, Giuseppina; Videira, Paula A.; Morava, Eva; Jaeken, Jaak; Dos Reis Ferreira, Vanessa.

In: International Journal of Molecular Sciences, Vol. 19, No. 5, 1304, 01.05.2018.

Research output: Contribution to journalReview article

TY - JOUR

T1 - CDG therapies: from bench to bedside

AU - Brasil, Sandra

AU - Pascoal, Carlota

AU - Francisco, Rita

AU - Marques-da-Silva, Dorinda

AU - Andreotti, Giuseppina

AU - Videira, Paula A.

AU - Morava, Eva

AU - Jaeken, Jaak

AU - Dos Reis Ferreira, Vanessa

N1 - SFRH/BD/124326/2016

PY - 2018/5/1

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AB - 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.

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KW - Biomarkers

KW - Clinical trials

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KW - Dietary supplementation

KW - Galactose

KW - Mannose

KW - Pharmacological chaperones

KW - Therapy

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U2 - 10.3390/ijms19051304

DO - 10.3390/ijms19051304

M3 - Review article

VL - 19

JO - International Journal of Molecular Sciences

JF - International Journal of Molecular Sciences

SN - 1422-0067

IS - 5

M1 - 1304

ER -

Brasil S, Pascoal C, Francisco R, Marques-da-Silva D, Andreotti G, Videira PA et al. CDG therapies: from bench to bedside. International Journal of Molecular Sciences. 2018 May 1;19(5). 1304. https://doi.org/10.3390/ijms19051304