Primary mitochondrial diseases (PMD) refer to a group of severe, often inherited genetic
conditions due to mutations in the mitochondrial genome or in the nuclear genes encoding …

Mitochondria are double-membraned cytoplasmic organelles that are responsible for the
production of energy in eukaryotic cells. The process is completed through oxidative …

Leigh syndrome, or infantile necrotizing subacute encephalopathy (OMIM# 256000), is one
of the most common manifestations of mitochondrial dysfunction, due to mutations in more …

Leigh syndrome (LS) is a rare, inherited neurometabolic disorder that presents with bilateral
brain lesions caused by defects in the mitochondrial respiratory chain and associated …

Mitochondria are signaling hubs responsible for the generation of energy through oxidative
phosphorylation, the production of key metabolites that serve the bioenergetic and …

The human brain has been deemed the most complex organ and has captivated
neuroscientists for decades. Most studies of this organ have relied on reductionist model …

More than 30 years after discovering Leber's hereditary optic neuropathy (LHON) as the first
maternally inherited disease associated with homoplasmic mtDNA mutations, we still …

Mitochondria exhibit high degree of heterogeneity within various tissues, including
differences in terms of morphology, quantity, or function. Mitochondria can even vary among …

Mitochondria are cellular organelles involved in generating energy to power various
processes in the cell. Although the pivotal role of mitochondria in neurogenesis was …

Mitochondrial encephalomyopathies (MEMP) are heterogeneous multisystem disorders
frequently associated with mitochondrial DNA (mtDNA) mutations. Clinical presentation …