Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?

Mancuso, Michelangelo; Conforti, Francesca Luisa; Rocchi, Anna; Tessitore, Alessandro; Muglia, M.; Tedeschi, Gioacchino; Panza, Daniela; Monsurro, M.R.; Sola, Patrizia; Mandrioli, Jessica; Choub, Anna; DelCorona, Alberto; Manca, Maria Laura; Mazzei, R.; Sprovieri, T.; Filosto, Massimiliano; Salviati, Alessandro; Valentino, Paola; Bono, Francesco; Caracciolo, Manuela; Simone, I. L.; Bella, Vincenzo La; Majorana, G.; Siciliano, Gabriele; Murri, Luigi; Quattrone, Aldo

doi:10.1016/j.neulet.2004.08.060

Cited by 67 publications

(52 citation statements)

References 31 publications

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“…All of the subjects analyzed in this study belonged to a population from the north of Spain, and specific mtDNA haplogroups matched well with those reported in previous studies of Caucasian populations. Therefore, the frequencies of the mtDNA haplogroups obtained in this study were significantly similar to those obtained by other authors analyzing both European (21,26,38) and Spanish (41) populations. (Data obtained from the analysis of the frequencies of European mtDNA haplogroups in the 4 published studies as compared those in the present study are available upon request from the corresponding author.)…”

Section: Discussionsupporting

confidence: 90%

“…These frequencies did not differ substantially from those reported in previous studies by other authors who analyzed different European populations (21,26,38) (data not shown). Frequencies obtained ranged from 42.8% for the more common haplogroup H, to 0.4% for the less common haplogroups I and W. Using the multiplex SBE assay, ϳ92% of the samples were assigned to the common European mtDNA haplogroups H, V or SuperHV, K, U, T, and J.…”

Section: Resultssupporting

confidence: 53%

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Mitochondrial DNA haplogroups: Role in the prevalence and severity of knee osteoarthritis

Rego‐Pérez¹,

Fernández-Moreno²,

Fernández-López³

et al. 2008

Arthritis & Rheumatism

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Objective. Some studies indicate that the mitochondrion is implicated in osteoarthritis (OA). To test the hypothesis that mitochondrial DNA (mtDNA) haplogroups contribute to the prevalence and severity of knee OA, we analyzed the European mtDNA haplogroups in a Spanish population of patients with knee OA and healthy control subjects.Methods. We combined the single-base extension assay with the polymerase chain reaction-restriction fragment length polymorphism technique to obtain the different single-nucleotide polymorphisms that characterize the European haplogroups in 457 patients with knee OA and 262 radiologic controls. Knee OA radio-

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Section: Discussionsupporting

confidence: 90%

Section: Resultssupporting

confidence: 53%

Mitochondrial DNA haplogroups: Role in the prevalence and severity of knee osteoarthritis

Rego‐Pérez¹,

Fernández-Moreno²,

Fernández-López³

et al. 2008

Arthritis & Rheumatism

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“…[38][39][40] Certain mitochondrial polymorphisms, such as those at position 4917, are associated with late-onset neurodegenerative diseases and their relatively high frequency suggests that they do not severely affect reproductive fitness. [24][25][26][27][28] For this reason, there may have been relatively little selective pressure against these potentially deleterious polymorphisms. The present findings point the way for future studies to quantify the biochemical effects of the 4917G allele, especially as they relate to free radical generation.…”

Section: Discussionmentioning

confidence: 99%

“…Epidemiological evidence for functional differences among haplogroups has been demonstrated previously in studies of neurodegenerative disorders including Parkinson's disease, Alzheimer's disease, Friedreich's ataxia and amyotrophic lateral sclerosis. [24][25][26][27][28] We previously described an association between haplogroup T and NRTI-associated PN among HIV-infected US participants in a prospective, randomized clinical trial. 29 Mitochondrial haplogroup T is found primarily in people of European descent, hence our analyses focused on Caucasians.…”

Section: Introductionmentioning

confidence: 99%

The mitochondrial pharmacogenomics of haplogroup T: MTND2*LHON4917G and antiretroviral therapy-associated peripheral neuropathy

et al. 2007

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Peripheral neuropathy (PN) due to mitochondrial injury complicates HIV therapy with some nucleoside reverse transcriptase inhibitors (NRTIs). Variation in the mitochondrial genome may influence susceptibility to NRTI toxicities. Two non-synonymous mitochondrial DNA polymorphisms, MTND1*LHON4216C (4216C) and MTND2*LHON4917G (4917G) were characterized in HIV-infected participants exposed to NRTIs in a randomized clinical trial. Among 250 self-identified white, non-Hispanic participants, symptomatic PN (X grade 1) developed in 70 (28%). Both 4216C (odds ratio (OR) ¼ 1.98 (95% confidence interval (CI) 1.05-3.75); P ¼ 0.04) and 4917G (OR ¼ 2.93 (95% CI 1.25-6.89); P ¼ 0.01) were more frequent in PN cases. These two polymorphisms remained independently associated with PN after adjusting for age, baseline CD4 count, plasma HIV RNA level, and NRTI randomization arm; 4216C (OR ¼ 2.0 (95% CI 1.1-4.0) P ¼ 0.04) and 4917G (OR ¼ 5.5 (95% CI 1.6-18.7) Po0.01). When 4917G individuals were excluded from the analysis, the association with 4216C was no longer seen. The mitochondrial 4917G polymorphism may increase susceptibility to NRTI-associated PN.

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“…Maternal inheritance, however, is characteristic of mitochondrial genetics (9) . Given the important role of the mitochondrial genome in cell metabolism, several studies have investigated the association between DNA lineages, multifactorial diseases, and ageing (10)(11)(12)(13)(14)(15) .…”

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confidence: 99%

Influência do DNA mitocondrial no glaucoma primário de ângulo aberto sob a visão da cienciometria

Reis¹,

Silva²,

Rodrigues³

2013

Rev. bras.oftalmol.

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RESUMOObjetivo: O glaucoma primário de ângulo aberto é uma doença degenerativa do nervo óptico que se encontra entre as principais causas de cegueira no mundo. Aspectos familiares já foram implicados como fatores importantes e comprovados em inúmeros estudos. Nesse artigo, apresentamos uma revisão sistemática dos trabalhos sobre glaucoma primário de ângulo aberto e DNA mitocondrial e fazemos uma análise estatística à luz dos conceitos da cienciometria. Métodos: A pesquisa bibliográfica de trabalhos envolvendo DNA mitocondrial e glaucoma primário de ângulo aberto foi realizada por meio da base de dados do sítio Scopus. Foi feito o levantamento a partir das palavras-chaves "Mitochondrial DNA" e "Glaucoma" em todos os campos para publicações no período compreendido de 1992 até agosto de 2012. Finalmente, foi realizada a estatística e cienciometria com os principais dados: autores que publicaram sobre o assunto DNA mitocondrial e glaucoma; revistas e outras publicações que tiveram trabalhos relacionados com o tema; Centros de Pesquisa e Universidades que mais publicaram e países onde foram realizados os estudos sobre DNA mitocondrial e glaucoma. Resultados: Identificamos que esses estudos têm aumentado sobremaneira ao longo dos últimos anos, mas ainda se encontram confinados, na maior parte, a alguns centros de pesquisa e concentrados em seletos grupos de autores na área da oftalmologia em países desenvolvidos. No Brasil, ainda não temos pesquisas publicadas sobre o assunto até o momento. Conclusão: Esses estudos são de fundamental importância para a elucidação das causas genéticas do glaucoma e para o desenvolvimento de novas terapias que não visem tão somente a diminuição da pressão intraocular.Descritores: DNA mitocondrial; Glaucoma primário de ângulo aberto; Cienciometria; Genética; Oftalmologia

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Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?

Cited by 67 publications

References 31 publications

Mitochondrial DNA haplogroups: Role in the prevalence and severity of knee osteoarthritis

Mitochondrial DNA haplogroups: Role in the prevalence and severity of knee osteoarthritis

The mitochondrial pharmacogenomics of haplogroup T: MTND2*LHON4917G and antiretroviral therapy-associated peripheral neuropathy

Influência do DNA mitocondrial no glaucoma primário de ângulo aberto sob a visão da cienciometria

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