Biomarkers for mitochondrial energy metabolism diseases

Research output: Contribution to journalReview article

Abstract

Biomarkers are an indicator of biologic or pathogenic processes, whose function is indicating the presence/absence of disease or monitoring disease course and its response to treatment. Since mitochondrial disorders (MDs) can represent a diagnostic challenge for clinicians, due to their clinical and genetic heterogeneity, the identification of easily measurable biomarkers becomes a high priority. Given the complexity of MD, in particular the primary mitochondrial respiratory chain (MRC) diseases due to oxidative phosphorylation (OXPHOS) dysfunction, a reliable single biomarker, relevant for the whole disease group, could be extremely difficult to find, most of times leading the physicians to better consider a 'biosignature' for the diagnosis, rather than a single biochemical marker. Serum biomarkers like lactate and pyruvate are largely determined in the diagnostic algorithm of MD, but they are not specific to this group of disorders. The concomitant determination of creatine (Cr), plasma amino acids, and urine organic acids might be helpful to reinforce the biosignature in some cases. In recent studies, serum fibroblast growth factor 21 (sFGF21) and serum growth differentiation factor 15 (sGDF15) appear to be promising molecules in identifying MD. Moreover, new different approaches have been developed to discover new MD biomarkers. This work discusses the most important biomarkers currently used in the diagnosis of MRC diseases, and some approaches under evaluation, discussing both their utility and weaknesses.

Original languageEnglish
Pages (from-to)443-454
Number of pages12
JournalEssays in Biochemistry
Volume62
Issue number3
DOIs
Publication statusPublished - Jul 20 2018

Fingerprint

Biomarkers
Energy Metabolism
Mitochondrial Diseases
Electron Transport
Growth Differentiation Factor 15
Serum
Creatine
Organic acids
Genetic Heterogeneity
Pyruvic Acid
Oxidative Phosphorylation
Lactic Acid
Plasmas
Amino Acids
Urine
Molecules
Monitoring
Physicians
Acids

Cite this

Biomarkers for mitochondrial energy metabolism diseases. / Boenzi, Sara; Diodato, Daria.

In: Essays in Biochemistry, Vol. 62, No. 3, 20.07.2018, p. 443-454.

Research output: Contribution to journalReview article

@article{27b4087d96144d4386b5e35d7000156b,
title = "Biomarkers for mitochondrial energy metabolism diseases",
abstract = "Biomarkers are an indicator of biologic or pathogenic processes, whose function is indicating the presence/absence of disease or monitoring disease course and its response to treatment. Since mitochondrial disorders (MDs) can represent a diagnostic challenge for clinicians, due to their clinical and genetic heterogeneity, the identification of easily measurable biomarkers becomes a high priority. Given the complexity of MD, in particular the primary mitochondrial respiratory chain (MRC) diseases due to oxidative phosphorylation (OXPHOS) dysfunction, a reliable single biomarker, relevant for the whole disease group, could be extremely difficult to find, most of times leading the physicians to better consider a 'biosignature' for the diagnosis, rather than a single biochemical marker. Serum biomarkers like lactate and pyruvate are largely determined in the diagnostic algorithm of MD, but they are not specific to this group of disorders. The concomitant determination of creatine (Cr), plasma amino acids, and urine organic acids might be helpful to reinforce the biosignature in some cases. In recent studies, serum fibroblast growth factor 21 (sFGF21) and serum growth differentiation factor 15 (sGDF15) appear to be promising molecules in identifying MD. Moreover, new different approaches have been developed to discover new MD biomarkers. This work discusses the most important biomarkers currently used in the diagnosis of MRC diseases, and some approaches under evaluation, discussing both their utility and weaknesses.",
author = "Sara Boenzi and Daria Diodato",
note = "{\circledC} 2018 The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society.",
year = "2018",
month = "7",
day = "20",
doi = "10.1042/EBC20170111",
language = "English",
volume = "62",
pages = "443--454",
journal = "Essays in Biochemistry",
issn = "0071-1365",
publisher = "Portland Press Ltd.",
number = "3",

}

TY - JOUR

T1 - Biomarkers for mitochondrial energy metabolism diseases

AU - Boenzi, Sara

AU - Diodato, Daria

N1 - © 2018 The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society.

PY - 2018/7/20

Y1 - 2018/7/20

N2 - Biomarkers are an indicator of biologic or pathogenic processes, whose function is indicating the presence/absence of disease or monitoring disease course and its response to treatment. Since mitochondrial disorders (MDs) can represent a diagnostic challenge for clinicians, due to their clinical and genetic heterogeneity, the identification of easily measurable biomarkers becomes a high priority. Given the complexity of MD, in particular the primary mitochondrial respiratory chain (MRC) diseases due to oxidative phosphorylation (OXPHOS) dysfunction, a reliable single biomarker, relevant for the whole disease group, could be extremely difficult to find, most of times leading the physicians to better consider a 'biosignature' for the diagnosis, rather than a single biochemical marker. Serum biomarkers like lactate and pyruvate are largely determined in the diagnostic algorithm of MD, but they are not specific to this group of disorders. The concomitant determination of creatine (Cr), plasma amino acids, and urine organic acids might be helpful to reinforce the biosignature in some cases. In recent studies, serum fibroblast growth factor 21 (sFGF21) and serum growth differentiation factor 15 (sGDF15) appear to be promising molecules in identifying MD. Moreover, new different approaches have been developed to discover new MD biomarkers. This work discusses the most important biomarkers currently used in the diagnosis of MRC diseases, and some approaches under evaluation, discussing both their utility and weaknesses.

AB - Biomarkers are an indicator of biologic or pathogenic processes, whose function is indicating the presence/absence of disease or monitoring disease course and its response to treatment. Since mitochondrial disorders (MDs) can represent a diagnostic challenge for clinicians, due to their clinical and genetic heterogeneity, the identification of easily measurable biomarkers becomes a high priority. Given the complexity of MD, in particular the primary mitochondrial respiratory chain (MRC) diseases due to oxidative phosphorylation (OXPHOS) dysfunction, a reliable single biomarker, relevant for the whole disease group, could be extremely difficult to find, most of times leading the physicians to better consider a 'biosignature' for the diagnosis, rather than a single biochemical marker. Serum biomarkers like lactate and pyruvate are largely determined in the diagnostic algorithm of MD, but they are not specific to this group of disorders. The concomitant determination of creatine (Cr), plasma amino acids, and urine organic acids might be helpful to reinforce the biosignature in some cases. In recent studies, serum fibroblast growth factor 21 (sFGF21) and serum growth differentiation factor 15 (sGDF15) appear to be promising molecules in identifying MD. Moreover, new different approaches have been developed to discover new MD biomarkers. This work discusses the most important biomarkers currently used in the diagnosis of MRC diseases, and some approaches under evaluation, discussing both their utility and weaknesses.

U2 - 10.1042/EBC20170111

DO - 10.1042/EBC20170111

M3 - Review article

C2 - 29980631

VL - 62

SP - 443

EP - 454

JO - Essays in Biochemistry

JF - Essays in Biochemistry

SN - 0071-1365

IS - 3

ER -