No evidence of association between optic neuritis and secondary LHON mtDNA mutations in patients with multiple sclerosis

Andalib, Sasan; Talebi, Mahnaz; Sakhinia, Ebrahim; Farhoudi, Mehdi; Sadeghi‐Bazargani, Homayoun; Masoudian, Nooshin; Vafaee, Manouchehr Seyedi; Gjedde, Albert

doi:10.1016/j.mito.2017.08.005

Cited by 8 publications

(2 citation statements)

References 29 publications

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“…The sporadic AD is categorized into early- and late-onset with a prevalence of 3–5% and 95–97%, respectively. 1-4 Genetics has been found to be a contributing factor in neurodegenerative diseases such as Parkinson’s disease, 5 multiple sclerosis, 6 Leber’s Hereditary Optic Neuropathy, 7 and AD. 8 Amyloid precursor protein (APP) 9,10 and presenilin-1-2 (PSEN1-2) mutations 11,12 have been found in less than 5% of the AD patients.…”

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confidence: 99%

Association of MS4A6A, CD33, and TREM2 gene polymorphisms with the late-onset Alzheimer’s disease

et al. 2019

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Introduction: Alzheimer’s disease (AD), which is a progressive neurodegenerative disorder, causes structural and functional brain disruption. MS4A6A, TREM2, and CD33 gene polymorphisms loci have been found to be associated with the pathobiology of late-onset AD (LOAD). In the present study, we tested the hypothesis of association of LOAD with rs983392, rs75932628, and rs3865444 polymorphisms in MS4A6A, TREM2, CD33 genes, respectively. Methods: In the present study, 113 LOAD patients and 100 healthy unrelated age- and gender-matched controls were selected. DNA was extracted from blood samples by the salting-out method and the genotyping was performed by RFLP-PCR. Electrophoresis was carried out on agarose gel. Sequencing was thereafter utilized for the confirmation of the results. Results: Only CD33 rs3865444 polymorphism revealed a significant difference in the genotypic frequencies of GG (P = 0.001) and GT (P = 0.001), and allelic frequencies of G (P = 0.033) and T (P = 0.03) between LOAD patients and controls. Conclusion: The evidence from the present study suggests that T allele of CD33 rs3865444 polymorphism is associated with LOAD in the studied Iranian population.

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confidence: 99%

Association of MS4A6A, CD33, and TREM2 gene polymorphisms with the late-onset Alzheimer’s disease

et al. 2019

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“…Метаанализ пяти исследований подтвердил связь MT-ND1 с РС [38]. Для полиморфизмов A4917G гена MT-ND2 и G13708A гена MT-ND5 значимые результаты получены в исследованиях, включавших большие выборки (не менее 1000 человек) [31], а незначимые -при исследовании небольших выборок (не более 200 участников) [34,39,40]. Для SNP G9055A гена MT-ATP6 установлено наличие ассоциации с РС у американцев европейского происхождения [30], но в другой работе, включавшей несколько европейских этносов, ассоциацию выявить не удалось [31].…”

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Mitochondrial genome and risk of multiple sclerosis

Boyko

Kozin

Osmak

et al. 2019

RJTAO

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Mitochondrial DNA (mtDNA) polymorphism makes a certain contribution to the formation of a genetic risk of multiple sclerosis (MS).Objective: to analyze the frequency of mtDNA variants in patients with MS and control individuals in the Russian population. A similar study was conducted for the first time.Patients and methods. The polymorphism of mtDNA was studied in the Russian population: in 283 unrelated patients with relapsing-remitting MS and in 290 unrelated healthy controls matched for gender and age.Results and discussion. The frequency of haplogroup J in the patients with MS was twice higher than that in the control group (p=0.0055) (odds ratio (OR) 2.00; 95% confidence interval (CI). 1.21–3.41). This association was mostly observed in women (p=0.0083) (OR 2.20; 95% CI, 1.19–4.03). There was also a significant association of the A allele of MT-ND5 (m. 13708G>A) with MS (p=0.03) (OR 1.89; 95% CI 1.11–3.32). Sex stratification showed that the association with MS was significant only in women (p=0.009; OR, 2.52; 95% CI, 1.29–5.14). Further investigations will aim to analyze mtDNA variability (at the level of individual polymorphisms, haplogroups, and whole genome) in patients with relapsing-remitting MS and in those with primary progressive MS versus healthy individuals and patients with relapsing-remitting MS according to disease severity.Conclusion. The data obtained in the Russian population suggest that mtDNA variations are involved in MS risk, to a greater extent in women.

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Novel missense mitochondrial DNA 4079A>G variation in familial early-onset Parkinson’s disease

et al. 2018

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No evidence of association between optic neuritis and secondary LHON mtDNA mutations in patients with multiple sclerosis

Cited by 8 publications

References 29 publications

Association of MS4A6A, CD33, and TREM2 gene polymorphisms with the late-onset Alzheimer’s disease

Association of MS4A6A, CD33, and TREM2 gene polymorphisms with the late-onset Alzheimer’s disease

Mitochondrial genome and risk of multiple sclerosis

Novel missense mitochondrial DNA 4079A>G variation in familial early-onset Parkinson’s disease

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