Next Article in Journal
FKBP51 Immunohistochemical Expression: A New Prognostic Biomarker for OSCC?
Next Article in Special Issue
From Lysosomal Storage Diseases to NKT Cell Activation and Back
Previous Article in Journal
Essential Roles of E3 Ubiquitin Ligases in p53 Regulation
Previous Article in Special Issue
Osteocyte Alterations Induce Osteoclastogenesis in an In Vitro Model of Gaucher Disease
Article Menu
Issue 2 (February) cover image

Export Article

Open AccessReview
Int. J. Mol. Sci. 2017, 18(2), 441; doi:10.3390/ijms18020441

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

1
Department of Internal Medicine, Geneva University Hospital, Rue Gabrielle-Perret-Gentil 4, CH-1211 Genève, Switzerland
2
Department of Internal Medicine, Reference Center for Lysosomal Storage Diseases, Hôpitaux Universitaires Paris Nord Val de Seine, site Beaujon, Assistance Publique-Hôpitaux de Paris, 100 boulevard du Général Leclerc, F-92110 Clichy la Garenne, France
3
Réanimation Médicale, Hôpital Saint André, CHU de Bordeaux, 1 rue Jean Burguet, F-33075 Bordeaux, France
4
Service de Biochimie et Biologie Moléculaire Grand Est, unité des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, F-69677 Bron, France
5
Inserm U1151, Institut Necker Enfants Malades, Université Paris Descartes, Laboratoire de Biochimie, Métabolomique et Protéomique, Hôpital Universitaire Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, 149 rue de Sèvres, F-75005 Paris, France
6
Institut National de la Santé et de la Recherche Médicale (INSERM) UMR1037, Centre de Recherches en Cancérologie de Toulouse (CRCT), Université Paul Sabatier, Laboratoire de Biochimie Métabolique, Institut Fédératif de Biologie, CHU Purpan, F-31059 Toulouse, France
7
Institut National de la Santé et de la Recherche Médicale (INSERM) UMR1037, Equipe Labellisée Ligue Contre le Cancer 2013, Centre de Recherches en Cancerologie de Toulouse (CRCT), Université de Toulouse, Service de Médecine Interne, CHU Purpan, F-31059 Toulouse, France
8
Centre de Référence des Maladies Héréditaires du Métabolisme de l’Enfant et de l’Adulte (MaMEA), Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, Institut Imagine, F-75012 Paris, France
9
Service d’onco-hématologie, Saint-Vincent de Paul Hospital, Boulevard de Belfort, Université Catholique de Lille, Univ. Nord de France, F-59000 Lille, France
10
Service de Neuropédiatrie, Pathologie du développement, Sorbonne Université, Reference Center for Lysosomal Diseases, Hôpital Trousseau, Assistance Publique-Hôpitaux de Paris, 24 Avenue du docteur Arnold Netter, F-75012 Paris, France
11
CHU Estaing et Université Clermont Auvergne, Hematology (Biology) et EA 7453 CHELTER, F-63000 Clermont-Ferrand, France
*
Author to whom correspondence should be addressed.
Academic Editor: Ritva Tikkanen
Received: 28 November 2016 / Revised: 9 February 2017 / Accepted: 10 February 2017 / Published: 17 February 2017
View Full-Text   |   Download PDF [2214 KB, uploaded 21 February 2017]   |  

Abstract

Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD—but also carriers of GBA1 mutation—have been found to be predisposed to developing Parkinson’s disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT) using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase). Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat). View Full-Text
Keywords: Gaucher disease; lysosomal storage disease; glucocerebrosidase; GBA1 gene; enzyme replacement therapy; substrate reduction therapy; biomarkers Gaucher disease; lysosomal storage disease; glucocerebrosidase; GBA1 gene; enzyme replacement therapy; substrate reduction therapy; biomarkers
Figures

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

MDPI and ACS Style

Stirnemann, J.; Belmatoug, N.; Camou, F.; Serratrice, C.; Froissart, R.; Caillaud, C.; Levade, T.; Astudillo, L.; Serratrice, J.; Brassier, A.; Rose, C.; Billette de Villemeur, T.; Berger, M.G. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int. J. Mol. Sci. 2017, 18, 441.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Int. J. Mol. Sci. EISSN 1422-0067 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top