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Biomarkers for Detecting Mitochondrial Disorders
Josef Finsterer1, Sinda Zarrouk-Mahjoub2
1Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria. fifigs1@yahoo.de.
Journal of Clinical Medicine
|February 2, 2018
Summary
Diagnosing mitochondrial disorders (MIDs) is challenging due to varied symptoms. Current biomarkers, both dry and wet, often lack validation, hindering early and accurate detection of these complex genetic conditions.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Mitochondrial disorders (MIDs) present with diverse genetic and phenotypic heterogeneity.
- The varied clinical manifestations of MIDs complicate diagnosis, leading to missed cases in early and late stages.
Purpose of the Study:
- To review existing and potential biomarkers for diagnosing mitochondrial disorders (MIDs).
- To highlight the need for easily accessible biomarkers to facilitate the diagnostic work-up of suspected MIDs.
Main Methods:
- A comprehensive literature review was conducted.
- Analysis of proposed dry and wet biomarkers for MID diagnosis.
Main Results:
- Dry biomarkers include clinical examination and various imaging techniques (CT, MRI, PET).
- Wet biomarkers encompass blood, urine, and CSF analyses (lactate, CK, pyruvate, etc.).
- The utility of microRNAs, cutaneous respirometry, and other novel markers remains undetermined.
Conclusions:
- Most current biomarkers for MIDs lack validation, feasibility, and cost-effectiveness.
- There is a critical need for validated biomarkers to improve the diagnosis of mitochondrial disorders.
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