نتایج جستجو برای: leigh syndrome
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Leigh syndrome (LS) is a subacute necrotizing encephalomyelopathy with gliosis in several brain regions that usually results in infantile death. Loss of murine Ndufs4, which encodes NADH dehydrogenase (ubiquinone) iron-sulfur protein 4, results in compromised activity of mitochondrial complex I as well as progressive neurodegenerative and behavioral changes that resemble LS. Here, we report the...
The ATP synthase in mitochondria was responsible for the synthesis of to provide chemical energy cell achieve metabolism. point mutation at mitochondrial DNA nt 8993(T>C and T>G) disrupted normal cellular mechanism synthase, causing a deficiency production synthesis. 8993 causes replacement leucine amino acid with an arginine(aL156R), changing sequence ATP6 gene, which inefficiency c-subu...
The most common pediatric mitochondrial disease is Leigh syndrome, an episodic, subacute neurodegeneration that can lead to death within the first few years of life, for which there are no proven general therapies. Mice lacking the complex I subunit, Ndufs4, develop a fatal progressive encephalopathy resembling Leigh syndrome and die at ≈60 d of age. We previously reported that continuously bre...
Thiamine transporter-2 deficiency is caused by mutations in the SLC19A3 gene. As opposed to other causes of Leigh syndrome, early administration of thiamine and biotin has a dramatic and immediate clinical effect. New biochemical markers are needed to aid in early diagnosis and timely therapeutic intervention. Thiamine derivatives were analysed by high performance liquid chromatography in 106 w...
BACKGROUND Leigh syndrome (LS) is a rare neurodegenerative mitochondrial disorder which typically presents in childhood but has a varied clinical course. Renal involvement such as proximal tubulopathy in patients with mitochondrial disorders has been described. However, end stage renal disease (ESRD) is uncommon and literature regarding patients undergoing kidney transplantation is limited. Suc...
We describe a case of severe infantile-onset complex I deficiency in association with an apparent de novo near-homoplasmic mutation (m.14487T>C) in the mitochondrial ND6 gene, which was previously associated with Leigh syndrome and other neurological disorders. The mutation was near-homoplasmic in muscle by NextGen sequencing (99.4% mutant), homoplasmic in muscle by Sanger sequencing, and it wa...
Described in 2005 by Bonnefond, L. et al, IARS2 (OMIM 612801) is a mitochondrial isoleucyl-tRNA synthetase encoded the nucleus. Phenotypically, mutation expressed broad clinical spectrum, which includes Leigh Syndrome (LS) as well extra-neurological effects. We described 7-year-old boy who presented global developmental delay, hypotonia and epilepsy, evolving with epileptic encephalopathy. An M...
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