نتایج جستجو برای: بیماری lhon
تعداد نتایج: 44681 فیلتر نتایج به سال:
Leber's hereditary optic neuropathy (LHON), a typical maternally inherited disease, is caused by a single nucleotide change of G to A at the site of nucleotide 11,788 of mtDNA. We used PCR method to analysis mtDNA from 102 individuals of nineteen pedigrees. The results showed that 67% of the patients (30/45) and 55% (29/53) of the maternal relatives have such a mutation, while no mutation exist...
R elatively little progress has been made in developing therapies for mitochondrial diseases in modern medicine as a result of the exquisite complexity of the structural proteins and pathways associated with mitochondrial functions and our incomplete understanding of pathophysiology (1). Leber hereditary optic neuropathy (LHON), in particular, provides a unique model for understanding molecular...
Leber's hereditary optic neuropathy (LHON) is the most common mitochondrial disorder. Nuclear modifier genes are proposed to modify the phenotypic expression of LHON-associated mitochondrial DNA (mtDNA) mutations. By using an exome sequencing approach, we identified a LHON susceptibility allele (c.572G>T, p.191Gly>Val) in YARS2 gene encoding mitochondrial tyrosyl-tRNA synthetase, which interact...
PURPOSE To investigate the role of mitochondrial haplotypes in the development of Leber's hereditary optic neuropathy (LHON) associated with the ND4 G11778A mutation in Chinese families. DESIGN Eight Han Chinese families with maternally transmitted LHON were studied using clinical, genetic, and molecular evaluations. PARTICIPANTS One hundred sixty-seven subjects from 8 Chinese families with...
An animal model of Leber hereditary optic neuropathy (LHON) was produced by introducing the human optic atrophy mtDNA ND6 P25L mutation into the mouse. Mice with this mutation exhibited reduction in retinal function by elecroretinogram (ERG), age-related decline in central smaller caliber optic nerve fibers with sparing of larger peripheral fibers, neuronal accumulation of abnormal mitochondria...
Leber’s hereditary optic neuropathy (LHON) is a disease that affects the optical nerve, causing visual loss. The diagnosis of LHON mostly defined by identification three pathogenic variants in mitochondrial DNA. Idebenone widely used to treat patients, but only some them are responders treatment. In our study, we assessed maximal respiration rate (MRR) and other respiratory parameters eight fib...
PURPOSE Approximately 95% of patients who are diagnosed with Leber's hereditary optic neuropathy (LHON) have one of three mitochondrial point mutations responsible for the disease, G3460A, G11778A, and T14484C. The purpose of this study was to develop a novel multiplex real-time amplification-refractory mutation system (ARMS) PCR combined with high-resolution melt curves to identify the individ...
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