Mitochondrial dysfunction as a cause of optic neuropathies

  title={Mitochondrial dysfunction as a cause of optic neuropathies},
  author={Valerio Carelli and Fred N. Ross-Cisneros and Alfredo Arrigo Sadun},
  journal={Progress in Retinal and Eye Research},

Figures and Tables from this paper

The Influence of Mitochondrial Dynamics and Function on Retinal Ganglion Cell Susceptibility in Optic Nerve Disease
The important roles of mitochondrial function and dysfunction in the process of neurodegeneration are widely acknowledged. Retinal ganglion cells (RGCs) appear to be a highly vulnerable neuronal cell
Molecular Mechanisms behind Inherited Neurodegeneration of the Optic Nerve
New tools are now available to capture all interlinked mechanistic intricacies for the pathogenesis of optic nerve neurodegeneration, casting hope for innovative therapies to be rapidly transferred into the clinic and effectively cure inherited optic neuropathies.
The role of mitochondria in health, ageing, and diseases affecting vision
Control of mitochondrial mediated apoptosis will become a holy grail Abu-Amero and Bosley have, in this issue (p 823),1 published a paper relating total cellular mitochondrial DNA (mtDNA) content
Myelin, mitochondria, and autoimmunity
There is mounting evidence that there is defective mitochondrial respiration also in OPA1-related patients with DOA, and a large subset of patients present with a heterozygous mutation in Opa1 , a nuclear gene encoding a dynamin-related GTPase targeted to mitochondria and involved in mitochondrial fusion, cristae organization, and control of apoptosis.
Critical dependence of neurons on mitochondrial dynamics.
A neurodegenerative perspective on mitochondrial optic neuropathies
These so-called “plus” phenotypes are mechanistically important as they put the loss of RGCs within the broader perspective of neuronal loss and mitochondrial dysfunction, highlighting common pathways that could be modulated to halt progressive neurodegeneration in other related CNS disorders.
The Role of MicroRNAs in Mitochondria-Mediated Eye Diseases
The current knowledge about the participation of miRNAs in both rare and common mitochondria-mediated eye diseases is summarized to highlight the potentiality of miRNA modulation as a possible gene/mutation-independent strategy in retinal diseases and highlight their promising role as disease predictive or prognostic biomarkers.


The distribution of mitochondrial activity in relation to optic nerve structure.
It is suggested that a fine balance exists between energy demand and tissue function in the optic nerve, which may explain why optic nerve pathological features are seen in those with mitochondrial disease.
Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies
Acquired mitochondrial impairment as a cause of optic nerve disease.
  • A. Sadun
  • Medicine, Biology
    Transactions of the American Ophthalmological Society
  • 1998
The hypothesis that a common pathophysiologic mechanism involving impairment of mitochondria function and, consequently, axonal transport underlies both genetic optic nerve diseases such as Leber's and acquired toxic and nutritional deficiency optic neuropathies is tested.
Loss of OPA1 Perturbates the Mitochondrial Inner Membrane Structure and Integrity, Leading to Cytochrome c Release and Apoptosis*
It is suggested that OPA1 is a major organizer of the mitochondrial inner membrane from which the maintenance of the cristae integrity depends and that abnormal apoptosis is a possible pathophysiological process leading to the retinal ganglion cells degeneration in ADOA patients.
Mitochondrial optic neuropathies
  • A. Sadun
  • Medicine, Biology
    Journal of neurology, neurosurgery, and psychiatry
  • 2002
Investigations show that these optic neuropathies involve inherited or acquired impairments of mitochondrial function, and further reflection on these diseases and the selected sites of injury may provide a useful model of the pathophysiological mechanisms involved.
Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve.
Formation of Compact Myelin Is Required for Maturation of the Axonal Cytoskeleton
Results indicate that formation of a normal compact myelin sheath is required for normal maturation of the neuronal cytoskeleton in large CNS neurons.
The pattern and mechanism of mitochondrial transport in axons.
  • P. Hollenbeck
  • Biology
    Frontiers in bioscience : a journal and virtual library
  • 1996
This review considers the current state of knowledge in these areas with an emphasis on the pattern of regulation of motility and how it underlies the role of mitochondria as the aerobic ATP source of the neuron.
Optic neuropathies and retinal ganglion cell death
Retinal ganglion cells (RCG) may die through a variety of mechanisms and strategies for neuroprotection may come from understanding and blocking either the intercellular signaling pathways or the intracellular cascades of events that lead to apoptosis.
Optic neuropathy induced by reductions in mitochondrial superoxide dismutase.
The striking similarity of the optic neuropathy to the histopathology of LHON is powerful evidence supporting ROS as a key factor in the pathogenesis of LHONS.