Genetics of Mitochondrial Diseases: From Laboratory to the Clinic

Dear Colleagues,

Mitochondrial diseases are a diverse group of metabolic diseases, defined by a defect in oxidative phosphorylation. Most of them affect the central nervous system and muscles, but virtually all organs and systems may be involved. Mitochondrial diseases may be caused by mutations in both the nuclear and the mitochondrial genomes. Mutations in both of them may lead to similar symptoms and the opposite is also true: mutations in the same gene, even the same mutation, may lead to different mitochondrial diseases. In some cases, a primary nuclear mutation causes a defect in the mitochondrial genome as is for example observed in the case of multiple mitochondrial DNA deletions or depletion.

For years, mitochondrial diseases were considered to be very rare, and, due to their extreme phenotypic and genetic variability, difficult to diagnose. The last few years have shown that although still rare, they are much more frequent than was expected, with prevalence reaching 1:5000 in some studies. At the same time, the development of fast massive parallel sequencing technologies has broadened our knowledge of their genetic background revealing new genes involved in the pathology of mitochondrial diseases.

While due to existing sequencing approaches such as panel sequencing or whole exome sequencing, it is easier to obtain the molecular diagnosis, there are still limited therapeutic options. Difficulties with reaching the mitochondria with new therapeutic agents, manipulating the mitochondrial genome and conducting clinical trials impeded by the inability to build homogenous patient groups slow down the progress.

The main achievement in the field of mitochondrial diseases in the last few years was undoubtedly the application of the so-called mitochondrial transfer as a method to prevent the inheritance of mitochondrial DNA mutations leading to devastating disease.

Mitochondrial dysfunction is observed not only in primary mitochondrial diseases but also in other genetic, especially neurological syndromes and numerous multifactorial disorders evoking a question on what is and what is not a mitochondrial disease.

In this issue, we aim to touch on the threads of clinical and genetic diagnosis and treatment of mitochondrial diseases but also ethical issues of new treatment methods and limitations in performing clinical trials are welcome.

Prof. Kasia Tonska
Prof. Ewa Bartnik
Guest Editors

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• mitochondrial diseases
• mitochondrial genetics
• genetic analysis
• therapy of mitochondrial diseases
• genotype-phenotype correlation