Skip to Content
Merck
  • Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?

Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?

Molecular genetics and metabolism (2014-09-02)
K P Coss, E P Treacy, E J Cotter, I Knerr, D W Murray, Y S Shin, P P Doran
ABSTRACT

Classical Galactosaemia is a rare disorder of carbohydrate metabolism caused by a deficiency of galactose-1-phosphate uridyltransferase (GALT). The disease is life-threatening in the neonate, and the only treatment option is life-long dietary restriction of galactose. However, long-term complications persist in treated patients including cognitive impairments, speech and language abnormalities and premature ovarian insufficiency in females. Microarray analysis of T-lymphocytes from treated adult patients identified systemic dysregulation of numerous gene pathways, including the glycosylation, inflammatory and inositol pathways. Analysis of gene expression in patient-derived dermal fibroblasts of patients exposed to toxic levels of galactose, with immunostaining, has further identified the susceptibility of the glycosylation gene alpha-1,2-mannosyltransferase (ALG9) and the inflammatory gene annexin A1 (ANXA1) to increased galactose concentrations. These data suggest that Galactosaemia is a multi-system disorder affecting numerous signalling pathways.

MATERIALS
Product Number
Brand
Product Description

Galactose, European Pharmacopoeia (EP) Reference Standard
USP
Galactose, United States Pharmacopeia (USP) Reference Standard
Supelco
Galactose, Pharmaceutical Secondary Standard; Certified Reference Material
Sigma-Aldrich
D-(+)-Galactose, ≥99% (HPLC), BioReagent, suitable for cell culture, suitable for insect cell culture
Sigma-Aldrich
D-(+)-Galactose, ≥99% (HPLC)
Sigma-Aldrich
D-(+)-Galactose, BioXtra, ≥99% (HPLC)
Sigma-Aldrich
Fluorescein isothiocyanate isomer I, ≥97.5% (HPLC)
Sigma-Aldrich
Fluorescein isothiocyanate isomer I, suitable for protein labeling, ≥90% (HPLC), powder
Sigma-Aldrich
D-(+)-Galactose, ≥98% (HPLC)
Sigma-Aldrich
Nutrient Mixture F-10 Ham, With L-glutamine and sodium bicarbonate, liquid, sterile-filtered, suitable for cell culture
Millipore
D-(+)-Galactose, suitable for microbiology, ≥99.0%
Sigma-Aldrich
D-(+)-Galactose, meets analytical specification of Ph. Eur., BP
Sigma-Aldrich
Fluorescein isothiocyanate isomer I, ≥97.5% (HPLC)
Sigma-Aldrich
Fluorescein 5(6)-isothiocyanate, ≥90% (HPLC)
Sigma-Aldrich
Fluorescein 5(6)-isothiocyanate, BioReagent, suitable for fluorescence, mixture of 2 components, ≥90% (HPLC)