Mitochondrial Optic Neuropathies: How Two Genomes may Kill the Same Cell Type?

2007 ◽  
Vol 27 (1-3) ◽  
pp. 173-184 ◽  
Author(s):  
Valerio Carelli ◽  
Chiara La Morgia ◽  
Luisa Iommarini ◽  
Rosanna Carroccia ◽  
Marina Mattiazzi ◽  
...  
Keyword(s):  
Retinal Ganglion Cells ◽  
Ganglion Cells ◽  
Point Mutations ◽  
Mitochondrial Diseases ◽  
Ocular Involvement ◽  
Retinal Ganglion ◽  
Mitochondrial Network ◽  
Cell Type ◽  
Cellular Targets ◽  
Hereditary Optic Neuropathy

Ocular involvement is a prevalent feature in mitochondrial diseases. Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA) are both non-syndromic optic neuropathies with a mitochondrial etiology. LHON is associated with point mutations in the mitochondrial DNA (mtDNA), which affect subunit genes of complex I. The majority of DOA patients harbor mutations in the nuclear-encoded protein OPA1, which is targeted to mitochondria and participates to cristae organization and mitochondrial network dynamics. In both disorders the retinal ganglion cells (RGCs) are specific cellular targets of the degenerative process. We here review the clinical features and the genetic bases, and delineate the possible common pathomechanism for both these disorders.

scholarly journals Molecular codes for cell type specification in Brn3 retinal ganglion cells

2017 ◽  
Vol 114 (20) ◽  
pp. E3974-E3983 ◽  
Author(s):  
Szilard Sajgo ◽  
Miruna Georgiana Ghinia ◽  
Matthew Brooks ◽  
Friedrich Kretschmer ◽  
Katherine Chuang ◽  
...  
Keyword(s):  
Retinal Ganglion Cells ◽  
Visual Information ◽  
Ganglion Cells ◽  
Neuronal Cell ◽  
Neuronal Morphology ◽  
Retinal Ganglion ◽  
Cell Type ◽  
Type Specification ◽  
The Brain ◽  
Combinatorial Code

Visual information is conveyed from the eye to the brain by distinct types of retinal ganglion cells (RGCs). It is largely unknown how RGCs acquire their defining morphological and physiological features and connect to upstream and downstream synaptic partners. The three Brn3/Pou4f transcription factors (TFs) participate in a combinatorial code for RGC type specification, but their exact molecular roles are still unclear. We use deep sequencing to define (i) transcriptomes of Brn3a- and/or Brn3b-positive RGCs, (ii) Brn3a- and/or Brn3b-dependent RGC transcripts, and (iii) transcriptomes of retinorecipient areas of the brain at developmental stages relevant for axon guidance, dendrite formation, and synaptogenesis. We reveal a combinatorial code of TFs, cell surface molecules, and determinants of neuronal morphology that is differentially expressed in specific RGC populations and selectively regulated by Brn3a and/or Brn3b. This comprehensive molecular code provides a basis for understanding neuronal cell type specification in RGCs.

The Photopic Negative Response evaluation in patients with Leber's hereditary optic neuropathy

2021 ◽  
pp. 216-219
Author(s):  
M.S. Shmelkova ◽  
◽  
N.L. Sheremet ◽  
I.A. Ronzina ◽  
N.A. Andreeva ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Retinal Ganglion Cells ◽  
Optic Neuropathy ◽  
Ganglion Cells ◽  
Negative Response ◽  
Photopic Negative Response ◽  
Control Group ◽  
Retinal Ganglion ◽  
Leber's Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy

Purpose. To assess the retinal ganglion cells function in patients with Leber's hereditary optic neuropathy (LHON) by registering the photopic negative response (PhNR) while the photopic electroretinography is performed. Material and methods. 14 patients with different LHON mutations and 9 healthy individuals were examined. A standard ophtalmological examination was performed, including visual fields, spectral optical coherence tomography, photopic electroretinography and PhNR tests. Results. Significant differences in the PhNR latency (68.4±4.01/64.28±5.37, p<0,01) and the PhNR amplitude (21.5±9.34/32.72±12.73, p<0,003) were revealed in patients with LHON and the control group. The study revealed significant differences between the PhNR latency (р<0.01) and the PhNR amplitude (р<0.008) in patients with visual acuity (VA) ≤ 0.1 and the control group, and between the PhNR amplitude in patients with VA≥0.13 and the control group (р<0.05). There were found significant correlations between the PhNR parameters and visual acuity, mean sensitivity, RNFL and GCC thickness. A strong positive correlation was found between the PhNR amplitude and the GCC thickness in patients with VA≥0.3. Conclusion. The PhNR parameters reflect the retinal ganglion cells function in patients with LHON and correlate with RNFL and GCC structural changes. Key words: Leber hereditary optic neuropathy, mitochondrial optical neuropathies, retinal ganglion cell, photopic negative response, PhNR.

Categorization of Physiologically and Morphologically Characterized non-α/non-β Cat Retinal Ganglion Cells Using Fractal Geometry

Fractals ◽  
1997 ◽  
Vol 05 (04) ◽  
pp. 673-684 ◽  
Author(s):  
H. F. Jelinek ◽  
I. Spence
Keyword(s):  
Fractal Dimension ◽  
Retinal Ganglion Cells ◽  
Ganglion Cells ◽  
Cell Types ◽  
Retinal Ganglion ◽  
Cell Type ◽  
Box Counting ◽  
Standard Values ◽  
Box Counting Method ◽  
Delta Cells

Non-α/non-β cat retinal ganglion cell images were obtained from the published literature, and a homogeneous group of cells was chosen as a standard for each currently accepted cell type (γ, δ and ε). The NIH box-counting method was chosen to determine the fractal dimension (Df) of all cells. The 'standard' values allowed comparisons with other morphologically and physiologically non-α/non-β classified cell types in the literature. We suggest, based on fractal analysis of the dendritic trees, that the morphologically defined γ, δ, and ε cells are distinct types. The W-tonic and W-phasic cell types were further divided into 2 subcategories (W-tonic1, W-tonic2, W-phasic1, W-phasic2). The fractal dimension, of the ε cells being equivalent to the W-tonic1 group and γ cell type equivalent to the W-phasic1 group. Delta cells may be equivalent to either the W-tonic2 or the W-phasic2 group. We discuss the value of the fractal dimension as an added morphological parameter for future morphophysiological classification schemes of vertebrate retinal ganglion cells.

Enriched populations of rat retinal ganglion cells: Studies using a cell-type specific surface marker

1983 ◽  
Vol 5 (6) ◽  
pp. 691-696 ◽  
Author(s):  
Richard Beale ◽  
David W. Beaton ◽  
Volker Neuhoff ◽  
Neville N. Osborne
Keyword(s):  
Specific Surface ◽  
Retinal Ganglion Cells ◽  
Ganglion Cells ◽  
Surface Marker ◽  
Retinal Ganglion ◽  
Cell Type ◽  
A Cell ◽  
Cell Type Specific

scholarly journals Leber Hereditary Optic Neuropathy: Review of Treatment and Management

2021 ◽  
Vol 12 ◽  
Author(s):  
Rabih Hage ◽  
Catherine Vignal-Clermont
Keyword(s):  
Retinal Ganglion Cells ◽  
Optic Neuropathy ◽  
Visual Loss ◽  
Ganglion Cells ◽  
Management Strategies ◽  
Retinal Ganglion ◽  
Leber Hereditary Optic Neuropathy ◽  
Efficient Treatment ◽  
Loss Of Vision ◽  
Hereditary Optic Neuropathy

Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease that specifically targets the retinal ganglion cells by reducing their ability to produce enough energy to sustain. The mutations of the mitochondrial DNA that cause LHON are silent until an unknown trigger causes bilateral central visual scotoma. After the onset of loss of vision, most patients experience progressive worsening within the following months. Few of them regain some vision after a period of ~1 year. Management of LHON patients has been focused on understanding the triggers of the disease and its pathophysiology to prevent the onset of visual loss in a carrier. Medical treatment is recommended once visual loss has started in at least one eye. Research evaluated drugs that are thought to be able to restore the mitochondrial electron transport chain of the retinal ganglion cells. Significant advances were made in evaluating free radical cell scavengers and gene therapy as potential treatments for LHON. Although encouraging the results of clinical trial have been mixed in stopping the worsening of visual loss. In patients with chronic disease of over 1 year, efficient treatment that restores vision is yet to be discovered. In this review, we summarize the management strategies for patients with LHON before, during, and after the loss of vision, explain the rationale and effectiveness of previous and current treatments, and report findings about emerging treatments.

scholarly journals Lineage tracing analysis of cone photoreceptor-associated cis-regulatory elements in the developing chicken retina

2019 ◽  
Author(s):  
Estie Schick ◽  
Sean D. McCaffery ◽  
Erin E. Keblish ◽  
Cassandra Thakurdin ◽  
Mark M. Emerson
Keyword(s):  
Progenitor Cells ◽  
Cell Fate ◽  
Retinal Ganglion Cells ◽  
Ganglion Cells ◽  
Regulatory Elements ◽  
Lineage Tracing ◽  
Horizontal Cells ◽  
Retinal Ganglion ◽  
Cone Photoreceptors ◽  
Cell Type

During vertebrate retinal development, transient populations of retinal progenitor cells with restricted cell fate choices are formed. One of these progenitor populations expresses the Thrb gene and can be identified with the ThrbCRM1 cis-regulatory element. Short-term assays have concluded that these cells preferentially generate cone photoreceptors and horizontal cells, however developmental timing has precluded an extensive cell type characterization of their progeny. Here we describe the development and validation of a recombinase-based lineage tracing system for the chicken embryo to further characterize the lineage of these cells. The ThrbCRM1 element was found to preferentially form photoreceptors and horizontal cells, as well as a small number of retinal ganglion cells. The photoreceptor cell progeny are exclusively cone photoreceptors and not rod photoreceptors, confirming that ThrbCRM1-progenitor cells are restricted from the rod fate. In addition, specific subtypes of horizontal cells and retinal ganglion cells were overrepresented, suggesting that ThrbCRM1 progenitor cells are not only restricted for cell type, but for cell subtype as well.

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