Mitochondria are found in all nucleated human cells and perform various essential functions,
including the generation of cellular energy. Mitochondria are under dual genome control …

Leigh syndrome, also referred to as subacute necrotizing encephalomyelopathy, is a severe,
early-onset neurodegenerative disorder that is relentlessly progressive and devastating to …

Background: Whole genome sequencing (WGS) is a comprehensive genetic testing
approach that reports most types of nucleotide variants. Objectives: This study sought to …

Mitochondrial DNA typing in forensic genetics has been performed traditionally using
Sanger-type sequencing. Consequently sequencing of a relatively-large target such as the …

Dilated cardiomyopathy (DCM) frequently affects relatively young, economically, and
socially active adults, and is an important cause of heart failure and transplantation. DCM is …

Kidneys have a high energy demand to facilitate the reabsorption of the glomerular filtrate.
For this reason, renal cells have a high density of mitochondria. Mitochondrial cytopathies …

Background Mitochondria have a central role in cellular functions, aging, and in certain
diseases. They possess their own genome, a vestige of their bacterial ancestor. Over the …

Mitochondria are essential organelles with specialized functions, which play crucial roles in
energy production, calcium homeostasis, and programmed cell death. In oocytes …

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

Purpose Accurate detection of mitochondrial DNA (mtDNA) alterations is essential for the
diagnosis of mitochondrial diseases. The development of high-throughput sequencing …