Lekárska genetika a diagnostika 2/2024

Our experience with the use of NGS in the DNA diagnosis of mitochondrial diseases

Mitochondrial diseases (MTO) are a clinically and genetically heterogeneous group of inherited diseases. Both nuclear and mitochondrial DNA are involved, so DNA diagnostics must deal with phenomena such as heteroplasmy. They can occur at any age, affect any tissue and have any mode of inheritance. Single mutation can cause different phenotypes and, conversely, the same phenotype can arise from mutations in different genes. Therefore, DNA diagnostics is essential for diagnosis of mitochondriopathies. Next-generation sequencing methods have made it possible to test not only a large number of nuclear genes, but also nuclear and mitochondrial genes simultaneously, and are becoming the gold standard for the diagnosis of mitochondriopathies.

Keywords: mitochondriopathies, DNA diagnostics, NGS