Apoptosis is a process of programmed cell death that serves as a major mechanism for the
precise regulation of cell numbers, and as a defense mechanism to remove unwanted and …

Definition of the disease Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition
characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss …

MFN2 and OPA1 genes encode two dynamin-like GTPase proteins involved in the fusion of
the mitochondrial membrane. They have been associated with Charcot–Marie–Tooth …

Maintaining the functional integrity of mitochondria is pivotal for cellular survival. It appears
that neuronal homeostasis depends on high-fidelity mitochondria, in particular …

Background Mitochondrial fusion protein mutations are a cause of inherited neuropathies
such as Charcot–Marie–Tooth disease and dominant optic atrophy. Previously we reported …

Mitochondria lack the ability to repair certain helix-distorting lesions that are induced at high
levels in mitochondrial DNA (mtDNA) by important environmental genotoxins and …

Muscle mitochondrial metabolism is a tightly controlled process that involves the
coordination of signaling pathways and factors from both the nuclear and mitochondrial …

Dominant optic atrophy is a rare inherited optic nerve degeneration caused by mutations in
the mitochondrial fusion gene OPA1. Recently, the clinical spectrum of dominant optic …

Glaucoma is the leading cause of irreversible blindness worldwide. This review aims to
provide a greater understanding of the complex genetic influences that may lead to …

Deleterious consequences of heterozygous OPA1 mutations responsible for autosomal
dominant optic atrophy remain a matter of debate. Primary skin fibroblasts derived from …