MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy
نویسندگان
چکیده
منابع مشابه
Mitochondria in neuroinflammation – Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS
Mitochondrial dysfunction is associated with neuroinflammation and neurodegenerative disease, but its role as a driver in these processes is uncertain. Understanding the pathogenesis of inherited mitochondrial disorders may help us to uncover mechanisms involved during acquired mitochondrial dysfunction. We review the mechanisms of mitochondrial dysfunction in Leber's hereditary optic neuropath...
متن کاملThe mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
Leber's hereditary optic neuropathy (LHON) is a common cause of bilateral optic nerve disease. The majority of LHON patients harbour one of three point mutations of the mitochondrial DNA (mtDNA) complex I, or NADH:ubiquinone oxidoreductase (ND) genes (G11778A in ND4, G3460A in ND1, T14484C in ND6). As a consequence, screening for these mutations has become part of the routine clinical investiga...
متن کاملX-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.
PURPOSE Leber hereditary optic neuropathy (LHON) is a common cause of genetically determined blindness in young adults. LHON preferentially affects males and is primarily due to a mutation affecting complex I genes of mitochondrial DNA (mtDNA). While LHON primarily affects men, a number of women are affected. Segregation analysis has implicated an interacting recessive X-chromosomal locus, with...
متن کاملMutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy
PURPOSE There are many similarities in the clinical presentation of Leber hereditary optic neuropathy (LHON) and in patients who have optic neuropathy and a history of heavy tobacco and alcohol consumption. The main objective of this study is to investigate the frequency of primary and secondary mitochondrial DNA (mtDNA) mutations for LHON in patients diagnosed as having alcohol and tobacco opt...
متن کاملPhosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON)
PURPOSE To determine the profile of neurodegeneration in Leber hereditary optic neuropathy (LHON). METHODS We quantitated serum levels of phosphorylated neurofilament heavy chain (pNF-H) in a Brazilian pedigree of 16 affected patients and 59 carriers with LHON, both molecularly characterized as harboring the G to A mutation at nucleotide 11,778 of the mitochondrial genome. The association of ...
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ژورنال
عنوان ژورنال: Genes
سال: 2021
ISSN: 2073-4425
DOI: 10.3390/genes12040521