The development of next generation sequencing (NGS) has greatly enhanced the diagnosis
of mitochondrial disorders, with a systematic analysis of the whole mitochondrial DNA …

ABSTRACT Introduction Primary mitochondrial diseases (PMDs) comprise a large and
heterogeneous group of genetic diseases that result from pathogenic variants in either …

Mitochondria are subject to continuous oxidative stress stimuli that, over time, can impair
their genome and lead to several pathologies, like retinal degenerations. Our main purpose …

Numerous lines of evidence have shown that the interaction between the nuclear and
mitochondrial genomes ensures the efficient functioning of the OXPHOS complexes, with …

Mitochondrial DNA (mtDNA) mutations cause severe maternally inherited syndromes and
the accumulation of somatic mtDNA mutations is implicated in aging and common diseases …

The frequency of mitochondrial diseases (MD) has been scarcely documented, and only a
few studies have reported data in certain specific geographical areas. In this study, we …

Recent advances in next-generation sequencing (NGS) technology have greatly
accelerated the need for efficient annotation to accurately interpret clinically relevant genetic …

The technology disclosed includes systems and methods to reduce overfitting of neural
network-implemented models that process sequences of amino acids and accompanying …

Leber's hereditary optic neuropathy (LHON) is due to missense point mutations affecting
mitochondrial DNA (mtDNA); 90% of cases harbor the m. 3460G> A, m. 11778G> A, and m …

Simple Summary Mitochondrial DNA (mtDNA) alterations have been reported to play
important roles in cancer development and metastasis. However, there is scarce information …