Abstract
The natural abundance of heavy stable isotopes (13C, 15N, 18O, etc.) is now of considerable importance in many research fields, including human physiology. In fact, it varies between tissues and metabolites due to isotope effects in biological processes, that is, isotope discriminations between heavy and light isotopic forms during enzyme or transporter activity. The metabolic deregulation associated with many diseases leads to alterations in metabolic fluxes, resulting in changes in isotope abundance that can be identified easily with current isotope ratio technologies. In this review, we summarize the current knowledge on changes in natural isotope composition in samples (including various tissues, hair, plasma, saliva) found in patients compared to controls, caused by human diseases. We discuss the metabolic origin of such isotope fractionations and highlight the potential of using isotopes at natural abundance for medical diagnosis and/or prognostic.
Highlights
It is more than a century that Marie Curie Skłodowska provided key advances on isotopes and how they can be used for human health
In this mini-review, we summarize the current knowledge in fractionations associated with human diseases and discuss the potential of using isotopes at natural abundance for medical diagnosis and/or prognostic
There is a lack of knowledge of specific metabolic causes of isotope fractionations in key processes and precise mechanisms at the origin of the isotopic signature of diseases are incompletely understood
Summary
It is more than a century that Marie Curie Skłodowska provided key advances on (radioactive) isotopes and how they can be used for human health. All of the natural elements are present in the form of various isotopic forms (e.g., 12 C and 13 C for carbon) and some changes in isotope ratios (i.e., fractionations) have been found to be specific of diseases, reflecting key alterations in metabolism. In this mini-review, we summarize the current knowledge in fractionations associated with human diseases and discuss the potential of using isotopes at natural abundance for medical diagnosis and/or prognostic
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