Current Progress and Future Perspectives: Toward Mitochondrial Medicine

  • José Marín-García


Mitochondrial disorders encompass a highly heterogeneous group of diseases characterized by not only defects in the OXPHOS system but also alterations in diverse signaling pathways, intracellular Ca2+ homeostasis, and cell survival and death. Numerous pathogenic mutations in genes encoding proteins, in genes involved in mtDNA synthesis and maintenance, OXPHOS subunits and complex assembly factors, and proteins implicated in mitochondrial dynamics have been described. Growing number of identified disease-causing mutations in both nuclear and mitochondrial genomes makes diagnosis of mitochondrial disorders extremely challenging. The current algorithm for molecular diagnosis of patients with suspected mitochondrial disease is a complex multistep process that implicates thorough clinical testing, histochemical and biochemical analyses, followed by molecular genetic screening.

The advent of the “omics” era has opened up unprecedented opportunities for a system biology approach to assess mitochondrial function and to diagnose mitochondria-related cardiovascular disease (CVD). The development of next-generation sequencing (NGS) and global gene expression profiling technologies has enabled genome-wide screening for disease-related mutations, single nucleotide polymorphisms, and copy number variants in time- and cost-effective manner. While progress in proteomics has not been as dramatic, recent technological advancements in this field have enabled the identification of proteins at sub-femtomolar levels in complex biological samples and brought quantification to the proteome accelerating translation of proteomic research into clinical practice.

Despite the enormous potential of this systemic approach, its use for diagnosis of mitochondria-related cardiac diseases remains rather limited. The convergence of mitochondrial research and high-throughput genomic, transcriptomic, proteomic, and bioinformatic technologies will improve our understanding of the role of this organelle in the heart and will ultimately lead to more individualized targeted therapies of mitochondria-related CVD.


Mitochondrial Disease Mitochondrial Disorder Cyclic Vomiting Syndrome Progressive External Ophthalmoplegia OXPHOS Complex 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • José Marín-García
    • 1
  1. 1.The Molecular Cardiology and Neuromuscular InstituteHighland ParkUSA

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