Bioinformatics in mitochondrial research

Mitochondria, with their unique genome separate from the nuclear DNA, are critical players in cellular bioenergetics. NGS technologies, coupled with bioinformatics, empower researchers to identify variations, mutations, and structural changes with unparalleled accuracy. The complexity inherent in mitochondrial research, stemming from the heterogeneity of these organelles within cells and tissues, is met with the analytical expertise provided by NGS bioinformatics. This enables researchers to dissect mitochondrial heterogeneity, identify subpopulations, and unravel their unique genetic signatures. Such detailed analysis is instrumental in comprehending the functional implications of mitochondrial genetic variations, shedding light on their involvement in crucial processes such as energy metabolism, cellular signaling, and the pathogenesis of diseases.

NGS bioinformatics plays a pivotal role in variant analysis within the mitochondrial genome. Researchers can precisely identify single nucleotide variants, insertions, deletions, and structural variations, unraveling the genetic landscape of mitochondrial disorders. Additionally, the detection of heteroplasmy—variations in the abundance of different mitochondrial DNA alleles—provides critical information for understanding the dynamics of mitochondrial populations within cells. This level of precision is essential for elucidating the role of mitochondrial mutations in diseases and exploring potential therapeutic interventions.

Selection of our publications:

Van Haute L, et al. (2023) TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun doi: 10.1038/s41467-023-36277-7

Van Haute L, et al. (2021) Detection of 5-formylcytosine in mitochondrial transcriptome. Methods Mol Biol 2192:59-68

Van Haute L, et al. (2019) METTL15 introduces N4-methylcytidine into human mitochondrial 12S rRNA and is required for mitoribosome biogenesis. Nucleic Acids Res 47(19):10267-10281

Van Haute L, et al. (2019) NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs. Nucleic Acids Res 47(16):8720-8733

Van Haute L, et al. (2017) Dealing with an unconventional genetic code in mitochondria: the biogenesis and pathogenic defects of the 5-formylcytosine modification in mitochondrial tRNAMet. Biomolecules 7(1):24

Van Haute L, et al. (2016) Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3. Nat Commun 7:12039

Van Haute L, et al. (2015) Mitochondrial transcript maturation and its disorders. J Inherit Metab Dis 38:655-80

Van Haute L, et al. (2013) Human embryonic stem cells commonly display large mitochondrial DNA deletions. Nat Biotechnol 31:20-3