PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 12880546

Rapid genetic testing for Gaucher disease by reverse hybridization.

David J Halsall·Gernot Kriegshäuser·Anne Moritz·Terence S Elsey·Christian Oberkanins
View original source ↗Export metadata ↓

Abstract

BACKGROUND: We evaluated a reverse hybridization method for the simultaneous detection of nine mutations that are associated with Gaucher disease. RESULTS AND CONCLUSION: Results were in agreement with those obtained by a polymerase chain reaction-restriction digestion method. The hybridization method produced results more quickly and with less operator input.

Explore related subjects

Gaucher DiseaseGenetic TestingGenotypeHumansNucleic Acid HybridizationPoint MutationPolymerase Chain ReactionEvaluation StudyJournal Article

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

David J Halsall, Gernot Kriegshäuser, Anne Moritz, Terence S Elsey, Christian Oberkanins. 2003. Rapid genetic testing for Gaucher disease by reverse hybridization.. https://doi.org/10.1258/000456303766477093

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2006

Therapy for Gaucher disease: don't stop thinking about tomorrow.

While enzyme replacement therapy for Gaucher disease has been widely used and appears to be an efficacious and safe treatment, this success should not be a reason for complacency. Other treatment strategies currently under consideration for patients with Gaucher disease include gene therapy, substrate reduction therapy and chaperone therapy. Furthermore, improvements in enzyme therapy could also have a significant clinical impact. Individuals with Gaucher disease and other lysosomal disorders will greatly benefit from continual refinement and optimization of the current therapy, as well as from the development of new treatment modalities that offer improvements in efficacy, cost, safety and availability.

Gaucher Disease↗
PubMed2006

Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease.

The lysosomal storage disorders encompass more than 40 distinct diseases, most of which are caused by the deficient activity of a lysosomal hydrolase leading to the progressive, intralysosomal accumulation of substrates such as sphingolipids, mucopolysaccharides, and oligosaccharides. Here, we primarily focus on Gaucher disease, one of the most prevalent lysosomal storage disorders, which is caused by an impaired activity of glucocerebrosidase, resulting in the accumulation of the glycosphingolipid glucosylceramide in the lysosomes. Enzyme replacement and substrate reduction therapies have proven effective for Gaucher disease cases without central nervous system involvement. We discuss the promise of chemical chaperone therapy to complement established therapeutic strategies for Gaucher disease. Chemical chaperones are small molecules that bind to the active site of glucocerebrosidase variants stabilizing their three-dimensional structure in the endoplasmic reticulum, likely preventing their endoplasmic reticulum-associated degradation and allowing their proper trafficking to the lysosome where they can degrade accumulated substrate to effectively ameliorate Gaucher disease.

Gaucher Disease↗