scholarly journals NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch‐Boonstra‐Schaaf optic atrophy syndrome

2021 ◽  
Author(s):  
Benjamin Billiet ◽  
Patrizia Amati‐Bonneau ◽  
Valérie Desquiret‐Dumas ◽  
Khadidja Guehlouz ◽  
Dan Milea ◽  
...  
Keyword(s):  
Optic Atrophy

Early signs of primary compressive optic atrophy evidenced by OCT in patients with basal brain tumors

2020 ◽  
Vol 84 (1) ◽  
pp. 35-39
Author(s):  
K. Iegorova ◽  
◽  
M. Znamenska ◽  
M. Guk ◽  
A. Mumliev ◽  
...  
Keyword(s):  
Brain Tumors ◽  
Optic Atrophy ◽  
Early Signs ◽  
Basal Brain

scholarly journals WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome

2021 ◽  
pp. jmedgenet-2020-107257
Author(s):  
Kun Hu ◽  
Malgorzata Zatyka ◽  
Dewi Astuti ◽  
Nicola Beer ◽  
Renuka P Dias ◽  
...  
Keyword(s):  
Protein Expression ◽  
Er Stress ◽  
Optic Atrophy ◽  
Wolfram Syndrome ◽  
Luciferase Reporter ◽  
Compound Heterozygous ◽  
Nonsense Mutations ◽  
Functional Studies ◽  
Unfolded Protein ◽  
Protein Response

BackgroundWolfram syndrome (WFS) is a rare disorder characterised by childhood-onset diabetes mellitus and progressive optic atrophy. Most patients have variants in the WFS1 gene. We undertook functional studies of WFS1 variants and correlated these with WFS1 protein expression and phenotype.Methods9 patients with a clinical diagnosis of WFS were studied with quantitative PCR for markers of endoplasmic reticulum (ER) stress and immunoblotting of fibroblast protein extracts for WFS1 protein expression. Luciferase reporter assay was used to assess ATF-6 dependent unfolded protein response (UPR) activation.Results6 patients with compound heterozygous nonsense mutations in WFS1 had no detectable WFS1 protein expression; 3 patients with missense variants had 4%, 45% and 48% WFS1 protein expression. One of these also had an OPA1 mutation and was reclassified as autosomal dominant optic atrophy-plus syndrome. There were no correlations between ER stress marker mRNA and WFS1 protein expression. ERSE-luciferase reporter indicated activation of the ATF6 branch of UPR in two patients tested. Patients with partial WFS1 expression showed milder visual acuity impairment (asymptomatic or colour blind only), compared with those with absent expression (registered severe vision impaired) (p=0.04). These differences remained after adjusting for duration of optic atrophy.ConclusionsPatients with WFS who have partial WFS1 protein expression present with milder visual impairment. This suggests a protective effect of partial WFS1 protein expression on the severity and perhaps progression of vision impairment and that therapies to increase residual WFS1 protein expression may be beneficial.

scholarly journals Loss of functional OPA 1 unbalances redox state: implications in dominant optic atrophy pathogenesis

2016 ◽  
Vol 3 (6) ◽  
pp. 408-421 ◽  
Author(s):  
Aurélie M. C. Millet ◽  
Ambre M. Bertholet ◽  
Marlène Daloyau ◽  
Pascal Reynier ◽  
Anne Galinier ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Redox State ◽  
Dominant Optic Atrophy

Leber's optic atrophy and “rhodanese” activity

1988 ◽  
Vol 149 (2) ◽  
pp. 110-111 ◽  
Author(s):  
Peter J. Goadsby ◽  
Ronald D. Fine
Keyword(s):  
Optic Atrophy

scholarly journals Nanoscopic quantification of sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells derived from patients with mitochondrial diseases

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Weiwei Zou ◽  
Qixin Chen ◽  
Jesse Slone ◽  
Li Yang ◽  
Xiaoting Lou ◽  
...  
Keyword(s):  
Oxidative Phosphorylation ◽  
Optic Atrophy ◽  
Respiratory Function ◽  
Clinical Symptoms ◽  
Mitochondrial Dynamics ◽  
Cerebellar Atrophy ◽  
Mitochondrial Diseases ◽  
Living Cells ◽  
Mitochondrial Morphology ◽  
Mitochondrial Oxidative Phosphorylation

AbstractSLC25A46 mutations have been found to lead to mitochondrial hyper-fusion and reduced mitochondrial respiratory function, which results in optic atrophy, cerebellar atrophy, and other clinical symptoms of mitochondrial disease. However, it is generally believed that mitochondrial fusion is attributable to increased mitochondrial oxidative phosphorylation (OXPHOS), which is inconsistent with the decreased OXPHOS of highly-fused mitochondria observed in previous studies. In this paper, we have used the live-cell nanoscope to observe and quantify the structure of mitochondrial cristae, and the behavior of mitochondria and lysosomes in patient-derived SLC25A46 mutant fibroblasts. The results show that the cristae have been markedly damaged in the mutant fibroblasts, but there is no corresponding increase in mitophagy. This study suggests that severely damaged mitochondrial cristae might be the predominant cause of reduced OXPHOS in SLC25A46 mutant fibroblasts. This study demonstrates the utility of nanoscope-based imaging for realizing the sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells, which may be particularly valuable for the quick evaluation of pathogenesis of mitochondrial morphological abnormalities.

BILATERAL OPTIC ATROPHY FOLLOWING MILD TRAUMA IN A MOTOR VEHICLE ACCIDENT.

2002 ◽  
Vol 79 (Supplement) ◽  
pp. 91
Author(s):  
Jeffrey Roth ◽  
Khadija Shahid ◽  
Jerome Sherman ◽  
Jeffrey Cooper
Keyword(s):  
Optic Atrophy ◽  
Motor Vehicle ◽  
Motor Vehicle Accident ◽  
Vehicle Accident
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