Table 2.
Method/Technology | Strengths | Weaknesses |
---|---|---|
mtDNA polymorphism | Whole genome can be sequenced for a large number of samples because of the small size of the mt genome (16.5 kb) | mtDNA sometimes can become integrated into the nuclear genome, and identifying the integrated mt genome in the nuclear genome is tedious |
mtDNA copy number | May provides additional information for identifying risk- and survival-associated biomarkers | Experiments should be done very carefully because the number of copies varies during the disease development |
Methylation profiling | Provides a mechanism for studying gene activation/inactivation without a change in the genome | Careful selection of the method is key to avoiding false- negative and false- positive results; tissue specificity can be a concern |
miRNA profiling | Requires a small amount of sample and provides additional information to understand epigenetically mediated gene regulation; information can be used in targeted intervention studies | Tissue specificity can be a concern |
Nuclear magnetic resonance (NMR) | Quantitation of analytes is accurate with full automation and high-througput capacity and high reproducibility | Identifying products can be challenging because of its insensitivity in detecting metabolites with concentrations in micromole range |
Mass spectroscopy (MS) | Extremely sensitive, can detect analytes at picomole range; requires small biospecimen volumes | Requires expensive consumables; poor representation of highly polar metabolites |
Metabolite profiling | Can be done easily in patient biofluids | Standards for all metabolites are not available |
Telomerase activity and telomere size variation | Suitable for paraffin-embedded tissue samples | Since the length of telomere changes with age, subject selection is very critical |
mt: mitochondrial