Are mtDNA polymorphisms associated with NMO?
There are a number of different ways that polymorphic variation of mtDNA could be associated with NMO. Human mtDNA is maternally inherited and has acquired extensive variation over time. Substitutions acquired >10 000 years before the present subdivide the phylogeny into a number of discrete clades called haplogroups. Specific haplogroups are preferentially associated with mtDNA mutations that cause LHON, and increase the clinical penetrance of the disorder (Brown et al., 1997; Man et al., 2004). Sub-haplogroup J1 is associated with an increased risk of visual failure in m.14484T > C pedigrees, and J2 is associated with an increased risk of visual failure in m.11778G > A pedigrees (Carelli et al., 2006; Hudson et al., 2007). Epidemiological evidence has led to the suggestion that NMO is a prototypic form of MS which emerged out of Africa, and was shaped into its current form through a gene-environment interaction between Human leukocyte antigens and Epstein-Barr virus, either through g
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