Global ETD Search
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Showing 1 to 11 of 11 for “"LHON"”.
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Molecular bases, pathogenic mechanisms and possible therapeutic approach in Leber's Hereditary Optic Neuropathy
Leberâ��s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by a rapid loss of central vision and optic atrophy, due to the selective degeneration of retinal ganglion cells. The age of onset is around 20, and the degenerative process is fast and usually the second eye …
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Mutationen bei primären Mitochondropathien und multiple Deletionen der mitochondrialen DNA bei idiopathischen inflammatorischen Myopathien
… KSS could therefore be confermed. The secondary LHON-Mutation A4917G was also found in this patient. The LHON-mutation G3460A was identified in two healthy members (mother and daughter) of a family suffering from LHON. The mutation was sequenced and quantified (100%) using restriction methods. I …
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Mitochondriale Zytopathien : Aufarbeitung der unterschiedlichen Pathogenese ausgewählter mitochondrialer Zytopathien anhand von zwei Fallbeispielen
… The first case is a patient suffering from LHON with a lymphoma, who needed chemotherapy. Due to the preliminary damaged mitochondria we were afraid of a higher risk the therapy could cause, mainly because apoptosis is discussed in the pathogenesis of LHON. In order to estimate this risk the …
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Mitochondrial dysfunction in hereditary optic neuropathies
… mitigation. Leber hereditary optic neuropathy (LHON) was the first pathology to be linked to a point mutation in the mtDNA. The mechanism by which point mutations in mitochondrial gene encoding Complex I subunits leads to optic nerve degeneration is still unknown, although is well accepted that …
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An Analysis of Mitochondrial DNA in Rett Syndrome and Other Neurodegenerative Disorders
… single cell sequencing were used to identify the LHON (Leber's Hereditary Optic Neuropathy) mutation in control and LHON single lymphoblasts. We then examined the state of mtDNA heteroplasmy in the heteroplasmic disease MELAS (mitochondrial encephalomyopathy, lactic acidosis, strokelike symptoms) …
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The Impact of Genetic Disease on the Family: Examining the Relationship Between Psychological Well-Being, Social Support, and Spirituality in Unaffected Carriers of Leber’s Hereditary Optic Neuropathy
… that mothers of children with vision loss due to LHON showed significantly lower levels of psychological stress as levels of perceived social support from family and a significant other increased and siblings of a person with vision loss due to LHON showed significantly lower levels of …
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MIR-181A/B INHIBITION AS A NEW STRATEGY FOR MITOCHONDRIAL DISEASE TREATMENT
… serves as a Leber’s Hereditary Optic Neuropathy (LHON) and Leigh syndrome (LS) model, two of the most prevalent MDs, and the rotenone-induced mouse model, an additional in vivo model of LHON. Notably, our results demonstrate that the downregulation of miR-181a/b consistently ameliorates various …
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New objective and psychophysical techniques to study the processing of visual signals with emphasis on chromatic afterimages
… with Leber’s Hereditary Optic Neuropathy (LHON) and one subject with Optic Neuritis were investigated using this approach. The results from the LHON subjects suggest not all classes of ganglion cells are affected uniformly in LHON, and that the pupil light reflex responses mediated through …
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Investigating quality of life in inherited optic neuropathies: Evaluating patient experiences and outcome measures
… (DOA) and Leber hereditary optic neuropathy (LHON). In both conditions, visual failure typically begins in the first three decades of life, with poor long-term visual prognosis. The overall aim of this study was to investigate the impact of vision loss on the quality of life (QoL) of people …
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Evaluation of the visual pathway with ERG, mfERG and mfVEP in inherited eye disorders
… for Leber`s hereditary optic neuropathy (LHON) was followed during the acute stage of the disease with mfVEP, demonstrating a correlation to the progression of the disease. The mfVEP may be of clinical value as an objective method for monitoring the course of this disease. MfVEP …
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Modelling and correction of retinal pathologies caused by mitochondrial DNA mutations via genetic engineering
… bearing the most common mtDNA mutation causing LHON, creating a unique platform to test translational therapies aimed at correcting it. Altogether, this thesis demonstrated the potential of mitochondrial genetic engineering for correcting a retinal mtDNA mutation in a mouse model characterised …