Journal of Analytical & Bioanalytical Techniques
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Fabry disease is an X-linked lysosomal storage disorder due to alpha-galactosidase A deficiency. It leads to the accumulation
of glycosphingolipids, mainly globotriaosylceramide (Gb
) and globotriaosylphingosine (lyso-Gb
) in biological fluids, and
different organs. The objectives of this research project were to discover novel biomarkers related to Gb
, to elucidate
their chemical structure, and to quantify the biomarkers of interest by tandem mass spectrometry (UPLC-MS/MS). Urine and
plasma samples from untreated Fabry patients and healthy controls were collected. Biomarker discovery was performed using
time of flight mass spectrometry (Waters Corporation). The results generated were processed for multivariate analysis. Eight
and 18 Gb
biomarkers were specifically detected in urine and plasma. An internal standard was synthesized for
relative urinary quantification of lyso-Gb3-related analogues using UPLC-MS/MS. Fabry patient urine specimens presented
analogues which were excreted in larger quantities than the lyso-Gb
biomarker itself, whereas, plasma levels of lyso-Gb
found to be in higher quantities than the rest of the analogues. This suggests a possible metabolic process between plasma and
urine. No significant quantities of lyso-Gb
urinary analogues were found in normal healthy controls. One male Fabry patient
with a cardiac variant mutation (N215S) had a normal urinary Gb
/creatinine level, but he presented abnormal levels of urinary
and plasma lyso-Gb
as well as urinary lyso-Gb
These metabolomic studies using a time of flight mass spectrometry approach allowed the detection of 26 novel
Fabry disease biomarkers, some of which were found specifically in patients having Fabry cardiac variant mutations.
Christiane Auray-Blais is the Director of the Quebec Provincial Mass Urinary Screening Program for hereditary metabolic disorders. She holds a
Ph.D. in radiobiology from the Faculty of Medicine and Health Sciences, at the Universit? de Sherbrooke, and has done her postdoctoral studies
from Duke University Medical Center. She has a master?s degree in Health Law from the Faculty of Law at the Universit? de Sherbrooke. She is the
author of 175 publications, abstracts and articles. She is a professor at the Universit? de Sherbrooke and Clinical Research Centre ?tienne-LeBel.
She is the Scientific Director for the Waters-CHUS Expertise Centre in Clinical Mass Spectrometry.
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