Expanding the Genetic Landscape of Mitochondrial Diseases

Dear Colleagues,

Inherited metabolic disorders, in particular those affecting mitochondrial bioenergetics, hallmark a clinically and genetically heterogenous group of diseases associated with more than 300 monogenic disorders. Two distinct genomes (mitochondrial DNA and nuclear DNA) can underlie mitochondrial disease pathogenesis, making the diagnosis a challenging area of genetics. However, recent advances in next-generation sequencing (NGS) techniques and improvements in analytical approaches, alongside ‘omics’ studies, have revolutionized the genetic diagnosis of mitochondrial diseases, leading to a rapid discovery of novel disease genes. Detailed functional characterization of disease-causing variants is required to confirm the genetic diagnosis and elucidate pathological mechanisms driving mitochondrial disorders. By integrating studies using patient samples, cell or animal models, as well as ‘omics’ approaches including transcriptomics and proteomics analyses, unbiased genotype-driven diagnosis of mitochondrial diseases can be achieved, which will also provide new insights into different aspects of mitochondrial biology.

The purpose of this Special Issue of Genes is to highlight current trends in the clinical and genetic diagnosis of mitochondrial disorders, ultimately leading to novel gene discovery and the establishment of pathogenic parameters that influence the disease state. This Special Issue welcomes studies in the field of mitochondrial disease diagnosis, using massively parallel sequencing (MPS) technologies, ‘omics’ approaches, and/or model systems to enable the establishment of disease etiology. In addition, articles on emerging treatment strategies, e.g., generation of models for testing, translation of MPS into new diagnostic strategies, and related ethical issues are welcome.

Dr. Monika Olahova
Prof. Dr. Robert W. Taylor
Guest Editors

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