Mutations in the human mitochondrial genome are known to cause an array of diverse
disorders, most of which are maternally inherited, and all of which are associated with …

Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are
the two most common inherited optic neuropathies in the general population. Both disorders …

Leber's hereditary optic neuropathy, the most frequent mitochondrial disease due to
mitochondrial DNA point mutations in complex I, is characterized by the selective …

Cobalt exerts well-known and documented toxic effects on the thyroid, heart and the
haematopoietic system, in addition to the occupational lung disease, allergic manifestations …

Leber's hereditary optic neuropathy (LHON), the most frequent mitochondrial disease, is
associated with mitochondrial DNA (mtDNA) point mutations affecting Complex I subunits …

We have studied the effects of idebenone on mitochondrial function in cybrids derived from
one normal donor (HQB17) and one patient harboring the G3460A/MT-ND1 mutation of …

Aim: In the present study, we investigated whether global DNA methylation levels are
affected by mitochondrial DNA (mtDNA) variants, which are known to modulate …

Next-generation sequencing (NGS) has increased our understanding of the molecular basis
of many primary mitochondrial diseases (PMDs). Despite this progress, many patients with …

Background Alzheimer's Disease (AD) is the most common neurodegenerative disease and
the leading cause of dementia among senile subjects. It has been proposed that AD can be …

Incomplete penetrance characterizes the two most frequent inherited optic neuropathies,
Leber's Hereditary Optic Neuropathy (LHON) and dominant optic atrophy (DOA), due to …