2006
DOI: 10.1016/j.arcmed.2006.04.009
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Mitochondrial D-Loop Variation in Leber Hereditary Neuropathy Patients Harboring Primary G11778A, G3460A, T14484C Mutations: J and W Haplogroups as High-Risk Factors

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Cited by 8 publications
(5 citation statements)
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“…There have been only a few previous reports of associations between the haplogroup W and certain diseases mainly due to its presence at low level in the population making it difficult to detect associations. In one report, however, an association is demonstrated for Iranian Leber hereditary optic neuropathy (LHON) patients with the m.3460G>A mutation, suggesting that W might be a haplotype that increases the penetrance of LHON [33]. …”
Section: Discussionmentioning
confidence: 99%
“…There have been only a few previous reports of associations between the haplogroup W and certain diseases mainly due to its presence at low level in the population making it difficult to detect associations. In one report, however, an association is demonstrated for Iranian Leber hereditary optic neuropathy (LHON) patients with the m.3460G>A mutation, suggesting that W might be a haplotype that increases the penetrance of LHON [33]. …”
Section: Discussionmentioning
confidence: 99%
“…Conversely, findings from other studies suggest that haplogroup J is a risk factor for or not associated with these and other neurologic disorders (Jones et al, 2007; Kalman et al, 1999; Mehta et al, 2009; Reynier et al, 1999; Ross et al, 2003). In particular, several studies have shown that an increased risk of Leber’s hereditary optic neuropathy (LHON) is associated with mtDNA mutations or chemical toxins in persons with haplogroup J (Brown et al, 2002, 1997; Shafa Shariat et al, 2006; Torroni et al, 1997). Haplogroup J has been associated with with increased longevity in some populations, but not in others (DeBenedictis et al, 1999; Niemi et al, 2003; Shlush et al, 2008).…”
Section: Discussionmentioning
confidence: 99%
“…22 There are several eye disorders in which the role of certain mtDNA haplogroups have been implicated, such as pseudoexfoliative glaucoma, 23,24 primary angle-closure glaucoma, 25 AMD, 26,27 and LHON. 28,29 Owing to the polymorphic nature of mtDNA, a number of relatively benign mitochondrial sequence variants have become fixed in different populations during the course of evolution. 30 There are 18 major mtDNA haplogroups in the human phylogenetic tree comprising a total of 497 haplogroup-defining polymorphic variants.…”
Section: Mitochondrial Haplogroupsmentioning
confidence: 99%