Regular ArticleMutation Analysis of the ND6 Gene in Patients with Lebers Hereditary Optic Neuropathy
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Mammalian Mitochondrial Complex I Structure and Disease-Causing Mutations
2018, Trends in Cell BiologyAnimal inference on human mitochondrial diseases
2016, Computational Biology and ChemistryCitation Excerpt :The amino acid Alanine, associated to the pathological mutation T10663C (Brown et al., 2002; see MitoMap database for a complete list of citations) in humans that determines the insurgence of Leber’s hereditary optic neuropathy (LOHN), is found in 57.27% of known Metazoa genomes, mostly fishes and birds (position 2597 in HumMamMeta alignment). Similarly, the amino acid Serine, associated to the pathological mutation C14568T (Wissinger et al., 1997; Fauser et al., 2002; see MitoMap database for a complete list of citations) that in humans similarly determines LOHN, is found in 16.88% of Metazoa, mostly in fishes, amphibia and birds (position 4054 in the HumMamMeta alignment). This latter was already observed by Achilli et al. (2012) that, based on its variability at deep taxonomic levels and conservativeness in mammals, suggested the possibility that this position may have acquired a particular role during evolution.
Mitochondrial Medicine: The Mitochondrial Biology and Genetics of Metabolic and Degenerative Diseases, Cancer, and Aging
2013, Emery and Rimoin's Principles and Practice of Medical GeneticsComplex i impairment in mitochondrial diseases and cancer: Parallel roads leading to different outcomes
2013, International Journal of Biochemistry and Cell BiologyAberrant tyrosine transport across the fibroblast membrane in patients with schizophrenia -indications of maternal inheritance
2011, Journal of Psychiatric ResearchCitation Excerpt :These findings may be consistent with mtDNA sequence mutations with maternal inheritance giving rise to changes throughout the body with the most serious consequences for the brain but also to some extent in skeletal muscles. These features are also typical for known conditions originating from mtDNA mutations transmitted by maternal inheritance such as Lebers Hereditary Optic Neuropathy (LHON) with a typical onset after puberty and Myoclonic Epilepsy with Ragged Red skeletal muscle Fibers (MERRF) (Shoffner et al., 1990; Wissinger et al., 1997). Further support for this theory has been provided by a study of mitochondrial sequence variants in patients with schizophrenia (Lindholm et al., 1997).
Mitochondrial optic neuropathies - Disease mechanisms and therapeutic strategies
2011, Progress in Retinal and Eye Research