Mitochondrial disorders represent a large collection of rare syndromes that are difficult to
manage both because we do not fully understand biochemical pathogenesis and because …

The mitochondrial disease group consists of different disorders with unprecedented
variability of clinical manifestations and tissue-specific symptoms. Their tissue-specific stress …

Primary mitochondrial diseases form one of the most common and severe groups of genetic
disease, with a birth prevalence of at least 1 in 5000. These disorders are multi-genic and …

Objectives: Early-life exposures to cardiovascular risk factors may manifest as early vascular
ageing, a phenomenon to which black populations are more prone. The metabolome …

Urine is ideal for non-targeted metabolomics, providing valuable insights into normal and
pathological cellular processes. Optimal extraction is critical since non-targeted …

Type 2 diabetes has become an epidemic disease largely explained by the dramatic
increase in obesity in recent years. Mitochondrial dysfunction is suggested as an underlying …

Abstract Introduction The m. 3243A> G mitochondrial DNA mutation is one of the most
common mitochondrial disease-causing mutations, with a carrier rate as high as 1: 400. This …

Mitochondrial diseases, often caused by defects in complex I (CI) of the oxidative
phosphorylation system, currently lack curative treatments. Human-relevant, high-throughput …

The dysfunction of respiratory chain complex I (CI) is the most common form of mitochondrial
disease that most often presents as Leigh syndrome (LS) in children—a severe …

This historical cohort study evaluated clinical characteristics of progression and prognosis in
adults with thymidine kinase 2 deficiency (TK2d). Records were available for 17 untreated …