Title:Metabolomics and the Diagnosis of Human Diseases -A Guide to the Markers and Pathophysiological Pathways Affected
Volume: 21
Issue: 7
Author(s): S. Medina, R. Dominguez-Perles, J.I. Gil, F. Ferreres and A. Gil-Izquierdo
Affiliation:
Keywords:
Bone, cancer, cardiovascular disease, celiac disease, Crohn’s disease, depression, diabetes, inborn errors of metabolism,
metabolomics, neurological disease.
Abstract: This review was designed as a handbook of metabolomic markers of high significance for a wide range of human
diseases. This is the first report to collate results from recent studies in a format that allows ready identification of
key metabolites by cross-comparisons of results from one disease to another. All the data presented in this work were obtained
by previous research carried out exclusively during clinical trials in humans. Also, discussion of the pathophysiological
pathways linked to the markers described is provided. The clinical assays focused on non-targeted or targeted metabolomics
and metabolite profiling (focused assays which only refer to a limited array of known biomarkers, applying
discriminatory and bioinformatic tools to them) as well as predictive modelling based on clinical trials. The data also
highlight pathways and biological compounds that are disrupted at early stages of the diseases, in order to help elucidate
target compounds and the pathophysiology of the considered diseases for early prognosis and diagnosis using noninvasive
samples (saliva, sputum, serum, plasma, blood, urine, tissue, faecal water or faeces). In the tables, the candidate
metabolites for biomarkers of diagnosis, or the biomarkers themselves, are detailed, indicating the type of sample in which
they were detected and their up- or down-regulation (if calculated). The metabolites derived from each study have been
filtered carefully, according to the analytical platform, and biostatistical discriminant analyses developed. Among the pool
of data provided, those reaching a level of significance of p=0.05-0.0001, according to the Bonferroni correction, Steel-
Dwass t- or Wilcoxon matched pair tests, are shown.
