Mitochondrial D-Loop Variation in Leber Hereditary Neuropathy Patients Harboring Primary G11778A, G3460A, T14484C Mutations: J and W Haplogroups as High-Risk Factors

Panahi, Masoud Shariat; Houshmand, Massoud; Tabassi, Abdol Reza

doi:10.1016/j.arcmed.2006.04.009

Cited by 8 publications

(5 citation statements)

References 47 publications

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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%

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration

Krüger

Hinttala

Majamaa

et al. 2010

Mol Neurodegeneration

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BackgroundMitochondrial dysfunction, oxidative damage and the accumulation of somatic mutations in mitochondrial DNA (mtDNA) have been associated with certain neurodegenerative disorders. Previous studies have also provided controversial results on the association of mtDNA haplogroups with susceptibility to Alzheimer's disease (AD), but possible relationships between mtDNA and frontotemporal lobar degeneration (FTLD) have been less frequently studied.MethodsWe analysed the role of mtDNA and its maintenance enzymes in 128 early-onset AD (eoAD) and in 66 FTLD cases. Patients and 99 controls were collected from a defined region of Finland, that of Northern Ostrobothnia, for the determination of mtDNA haplogroups and the analysis of two common mtDNA mutations (m.3243A>G, m.8344A>G). In addition, screening was performed for five common POLG1 mutations (T251I, A467T, P587L, W748S and Y955C) and all the coding exons of the PEO1 and ANT1 genes were screened for mutations.ResultsThe frequency of haplogroup cluster IWX was 2.3 fold higher among the FTLD cases than in the controls (OR 2.69, 95% CI 1.09-6.65, p = 0.028). The frequency of mtDNA haplogroups or clusters did not differ between the eoAD cases and controls. The two mtDNA mutations and five POLG1 mutations were absent in the eoAD and FTLD patients. No pathogenic mutations were found in the PEO1 or ANT1 genes.ConclusionsWe conclude that the haplogroup cluster IWX was associated with FTLD in our cohort. Further studies in other ethnically distinct cohorts are needed to clarify the contribution of mtDNA haplogroups to FTLD and AD.

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Section: Discussionmentioning

confidence: 99%

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration

Krüger

Hinttala

Majamaa

et al. 2010

Mol Neurodegeneration

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“…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%

Mitochondrial DNA variation and HIV-associated sensory neuropathy in CHARTER

et al. 2012

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HIV-associated sensory neuropathy remains an important complication of combination antiretroviral therapy (CART) and HIV infection. Mitochondrial DNA haplogroups and single nucleotide polymorphisms (SNPs) have previously been associated with symptomatic neuropathy in clinical trial participants. We examined associations between mitochondrial DNA variation and HIV-associated sensory neuropathy in CHARTER. CHARTER is a U.S. based longitudinal observational study of HIV-infected adults who underwent a structured interview and standardized examination. HIV-associated sensory neuropathy was determined by trained examiners as ≥1 sign (diminished vibratory and sharp-dull discrimination or ankle reflexes) bilaterally. Mitochondrial DNA sequencing was performed and haplogroups were assigned by published algorithms. Multivariable logistic regression of associations between mitochondrial DNA SNPs, haplogroups and HIV-associated sensory neuropathy were performed. In analyses of associations of each mitochondrial DNA SNP with HIV-associated sensory neuropathy, the two most significant SNPs In conclusion, in this cohort of mostly combination antiretroviral therapy-treated subjects, two common mitochondrial DNA SNPs and their corresponding haplogroups were associated with a markedly decreased prevalence of HIV-associated sensory neuropathy.

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“…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%

Neurodegenerative Eye Disorders

Mohanty

Dada

Dada³

2016

Asia-Pacific Journal of Ophthalmology

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As a major source of cellular energy, mitochondria are critical for optimal ocular function. They are also essential for cell differentiation and survival. Mitochondrial mutations and oxidative damage to the mitochondrial DNA are important factors underlying the pathology of many ocular disorders. With increasing age, mitochondrial DNA damage accumulates and results in several eye diseases. It is evident that the mitochondrial genome is more susceptible to stress and damage than the nuclear genome, as it lacks histone protection, a nucleotide excision repair system, and recombination repair, and it is the source and target of free radicals. Accumulation of mitochondrial mutations beyond a certain threshold explains the marked variations in phenotypes seen in mitochondrial diseases and the molecular mechanisms related to the pathogenesis of several chronic disorders in the eye. This review details the structure and function of mitochondria and the mitochondrial genome along with the mitochondrial involvement in various neurodegenerative ophthalmic disorders.

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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

Cited by 8 publications

References 47 publications

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration

Mitochondrial DNA variation and HIV-associated sensory neuropathy in CHARTER

Neurodegenerative Eye Disorders

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