Background Genetic mitochondrial diseases represent a significant challenge to human
health. These diseases are extraordinarily heterogeneous in clinical presentation and …

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
syndrome, a maternally inherited mitochondrial disorder, is characterized by its genetic …

Riboflavin, known as vitamin B2, a water-soluble vitamin, is an essential nutrient in
vertebrates, hence adequate dietary intake is imperative. Riboflavin plays a role in a variety …

Stroke-like episodes (SLEs) are the hallmark of mitochondrial encephalopathy with lactic
acidosis and stroke-like episode (MELAS) syndrome but rarely occur also in other specific or …

The importance of mitochondria in mammalian cells is widely known. Several biochemical
reactions and pathways take place within mitochondria: among them, there are those …

Mitochondria play essential metabolic roles in neural cells. Mitochondrial dysfunction has
profound effects on the brain. In primary mitochondrial diseases, mutations that impair …

Mitochondrial proteins carrying iron-sulfur (Fe-S) clusters are involved in essential cellular
pathways such as oxidative phosphorylation, lipoic acid synthesis, and iron metabolism …

COA8-related leukoencephalopathy is a recently described rare cavitating
leukoencephalopathy caused by biallelic variants in the COA8 gene. Clinically, it presents …

Iron-sulfur clusters (ISCs) are highly conserved moieties embedded into numerous crucial
proteins in almost all bacteria, plants and mammals. As such, ISC biosynthesis is critical to …

In adulthood, spinal cord MRI abnormalities such as T2-weighted hyperintensities and
atrophy are commonly associated with a large variety of causes (inflammation, infections …