In the last ten years, the knowledge of the genetic basis of mitochondrial diseases has
significantly advanced. However, the vast phenotypic variability linked to mitochondrial …

Summary Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-
3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are …

Mitochondria are essential for cellular function and viability, serving as central hubs of
metabolism and signaling. They possess various metabolic and quality control mechanisms …

Progressive external ophthalmoplegia (PEO), characterized by ptosis and impaired eye
movements, is a clinical syndrome with an expanding number of etiologically distinct …

Mitochondrial dysfunction, especially perturbation of oxidative phosphorylation and
adenosine triphosphate (ATP) generation, disrupts cellular homeostasis and is a …

Background Progressive external ophthalmoplegia (PEO) is a common subtype of
mitochondrial encephalomyopathy. Objective The study aimed to investigate the relationship …

RRM2B encodes the p53-inducible small subunit (p53R2) of ribonucleotide reductase, a key
protein for mitochondrial DNA (mtDNA) synthesis. Pathogenic variants in this gene result in …

Purpose Diseases caused by defects in mitochondrial DNA (mtDNA) maintenance
machinery, leading to mtDNA deletions, form a specific group of disorders. However, mtDNA …

Primary mitochondrial myopathies (PMM) are a clinically and genetically highly
heterogeneous group that, in some cases, may manifest exclusively as fatigue and exercise …

Background and objectives Mitochondrial diseases are caused by defects in oxidative
phosphorylation, with primary mitochondrial myopathies (PMM) being a subset where …