The POLG gene encodes the mitochondrial DNA polymerase that is responsible for
replication of the mitochondrial genome. Mutations in POLG can cause early childhood …

Mitochondria are dynamic bioenergetic organelles whose maintenance requires around
1500 proteins from two genomes. Mutations in either the mitochondrial or nuclear genome …

Mitochondrial diseases are a clinically and genetically heterogeneous group of disorders
that result from dysfunction of the mitochondrial oxidative phosphorylation due to molecular …

For the vast majority of patients with mitochondrial diseases, only supportive and
symptomatic therapies are available. However, in the last decade, due to extraordinary …

Primary mitochondrial disease (PMD) is a group of complex genetic disorders that arise due
to pathogenic variants in nuclear or mitochondrial genomes. Although PMD is one of the …

Objective Thymidine kinase 2, encoded by the nuclear gene TK2, is required for
mitochondrial DNA maintenance. Autosomal recessive TK2 mutations cause depletion and …

Mitochondrial disorders comprise a molecular and clinically diverse group of diseases that
are associated with mitochondrial dysfunction leading to multi-organ disease. With recent …

Primary mitochondrial diseases represent some of the most common and severe inherited
metabolic disorders, affecting~ 1 in 4,300 live births. The clinical and molecular diversity …

Background Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear
DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine …

The development and application of high-throughput omics technologies have enabled a
more in-depth understanding of mitochondrial biosynthesis metabolism and the …