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Mitochondrial Haplogroups Affect Severity But Not Prevalence of Diabetic Retinopathy.
Bregman JA, Herren DJ, Estopinal CB, Chocron IM, Harlow PA, Warden C, Brantley MA Jr, Samuels DC. Bregman JA, et al. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1346-1351. doi: 10.1167/iovs.16-20616. Invest Ophthalmol Vis Sci. 2017. PMID: 28245487 Free PMC article.
PURPOSE: We previously reported European mitochondrial haplogroup H to be a risk factor for and haplogroup UK to be protective against proliferative diabetic retinopathy (PDR) among Caucasian patients with diabetic retinopathy (DR) …
PURPOSE: We previously reported European mitochondrial haplogroup H to be a risk factor for and haplogroup UK to be pro …
Mitochondrial haplogroups are associated with severity of diabetic retinopathy.
Estopinal CB, Chocron IM, Parks MB, Wade EA, Roberson RM, Burgess LG, Brantley MA Jr, Samuels DC. Estopinal CB, et al. Invest Ophthalmol Vis Sci. 2014 Aug 12;55(9):5589-95. doi: 10.1167/iovs.14-15149. Invest Ophthalmol Vis Sci. 2014. PMID: 25118268 Free PMC article.
PURPOSE: To determine if specific mitochondrial haplogroups associate with nonproliferative diabetic retinopathy (NPDR) and proliferative diabetic retinopathy (PDR). ...The association was independent of the major clinical variables af …
PURPOSE: To determine if specific mitochondrial haplogroups associate with nonproliferative diabetic retinopathy …
Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation.
Schaefer PM, Scherer Alves L, Lvova M, Huang J, Rathi K, Janssen K, Butic A, Yardeni T, Morrow R, Lott M, Murdock D, Song A, Keller K, Garcia BA, Francomano CA, Wallace DC. Schaefer PM, et al. Proc Natl Acad Sci U S A. 2022 Nov 8;119(45):e2212417119. doi: 10.1073/pnas.2212417119. Epub 2022 Nov 2. Proc Natl Acad Sci U S A. 2022. PMID: 36322731 Free PMC article.
Analysis of the maternally inherited mtDNA revealed a novel genotype encompassing the haplogroup J - defining mitochondrial DNA (mtDNA) ND5 m.13708G>A (A458T) variant arising on the mtDNA haplogroup H7A background, an extremely rare combination. ...Thus, c …
Analysis of the maternally inherited mtDNA revealed a novel genotype encompassing the haplogroup J - defining mitochondrial DN …
Differential effects of cisplatin on cybrid cells with varying mitochondrial DNA haplogroups.
Abedi S, Yung G, Atilano SR, Thaker K, Chang S, Chwa M, Schneider K, Udar N, Bota D, Kenney MC. Abedi S, et al. PeerJ. 2020 Oct 1;8:e9908. doi: 10.7717/peerj.9908. eCollection 2020. PeerJ. 2020. PMID: 33062421 Free PMC article.
RESULTS: Results indicated that untreated cybrids with varying mtDNA haplogroups had similar relative metabolic activity before cisplatin treatment. ...CONCLUSION: Our findings suggest that an individual's mtDNA background may be associated with variations in their respons …
RESULTS: Results indicated that untreated cybrids with varying mtDNA haplogroups had similar relative metabolic activity before cispl …
"Mitochondrial pathogenic mutations and metabolic alterations associated with COVID-19 disease severity".
Kumari D, Singh Y, Singh S, Dogra V, Srivastava AK, Srivastava S, Garg I, Bargotya M, Hussain J, Ganju L, Varshney R. Kumari D, et al. J Med Virol. 2023 Feb;95(2):e28553. doi: 10.1002/jmv.28553. J Med Virol. 2023. PMID: 36832542
Mitochondrial mutations have been found to be associated with several respiratory diseases. ...The present study aims to elucidate the role of mitochondrial DNA (mtDNA) mutations, mitochondrial haplogroup, and energy metabolism in disease sev …
Mitochondrial mutations have been found to be associated with several respiratory diseases. ...The present study aims to eluci …
Mitochondrial DNA haplogroups modulate the radiographic progression of Spanish patients with osteoarthritis.
Soto-Hermida A, Fernández-Moreno M, Pértega-Díaz S, Oreiro N, Fernández-López C, Blanco FJ, Rego-Pérez I. Soto-Hermida A, et al. Rheumatol Int. 2015 Feb;35(2):337-44. doi: 10.1007/s00296-014-3104-1. Epub 2014 Aug 3. Rheumatol Int. 2015. PMID: 25086630
Taking into account the incidence of the mitochondria and the mtDNA haplogroups in the pathogenesis of OA, the main objective of this work was to evaluate the incidence of the mtDNA haplogroups in the radiographic progression of the OA disease in a well-chara …
Taking into account the incidence of the mitochondria and the mtDNA haplogroups in the pathogenesis of OA, the main objective …
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.
Caporali L, Fiorini C, Palombo F, Romagnoli M, Baccari F, Zenesini C, Visconti P, Posar A, Scaduto MC, Ormanbekova D, Battaglia A, Tancredi R, Cameli C, Viggiano M, Olivieri A, Torroni A, Maestrini E, Rochat MJ, Bacchelli E, Carelli V, Maresca A. Caporali L, et al. Front Genet. 2022 Nov 7;13:953762. doi: 10.3389/fgene.2022.953762. eCollection 2022. Front Genet. 2022. PMID: 36419830 Free PMC article.
Multivariable regression analyses indicated that variants with 15%-5% heteroplasmy in probands are associated to a greater severity of ASD based on ADOS-2 criteria, whereas paternal super-haplogroups H and JT were associated with milder phenotypes. ...The unexpected …
Multivariable regression analyses indicated that variants with 15%-5% heteroplasmy in probands are associated to a greater severity o …
Mitochondrial DNA haplogroup analysis in Saudi Arab patients with multiple sclerosis.
Al-Kafaji G, Alwehaidah MS, Alsabbagh MM, Alharbi MA, Bakhiet M. Al-Kafaji G, et al. PLoS One. 2022 Dec 19;17(12):e0279237. doi: 10.1371/journal.pone.0279237. eCollection 2022. PLoS One. 2022. PMID: 36534684 Free PMC article.
All patients and controls could be classified into ten haplogroups. The European-specific haplogroup U was more prevalent in patients than in the controls (26.1% vs. 4.2%), whereas haplogroup T was only present in patients and haplogroups HV and …
All patients and controls could be classified into ten haplogroups. The European-specific haplogroup U was more prevalent …
Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis.
Frye RE, Rincon N, McCarty PJ, Brister D, Scheck AC, Rossignol DA. Frye RE, et al. Neurobiol Dis. 2024 May 2:106520. doi: 10.1016/j.nbd.2024.106520. Online ahead of print. Neurobiol Dis. 2024. PMID: 38703861 Review.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting 1 in 36 children and is associated with physiological abnormalities, most notably mitochondrial dysfunction, at least in a subset of individuals. ...Meta-analyses discovered significant differ …
Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting 1 in 36 children and is associated with physiological abnor …
Mitochondrial genomic variation in dementia with Lewy bodies: association with disease risk and neuropathological measures.
Valentino RR, Ramnarine C, Heckman MG, Johnson PW, Soto-Beasley AI, Walton RL, Koga S, Kasanuki K, Murray ME, Uitti RJ, Fields JA, Botha H, Ramanan VK, Kantarci K, Lowe VJ, Jack CR, Ertekin-Taner N, Savica R, Graff-Radford J, Petersen RC, Parisi JE, Reichard RR, Graff-Radford NR, Ferman TJ, Boeve BF, Wszolek ZK, Dickson DW, Ross OA. Valentino RR, et al. Acta Neuropathol Commun. 2022 Jul 14;10(1):103. doi: 10.1186/s40478-022-01399-4. Acta Neuropathol Commun. 2022. PMID: 35836284 Free PMC article.
Patterns of stable polymorphisms in the mitochondrial genome (mtDNA) alter OXPHOS efficiency and define individuals to specific mtDNA haplogroups. This study investigates if mtDNA haplogroup background affects clinical DLB risk and neuropathological di …
Patterns of stable polymorphisms in the mitochondrial genome (mtDNA) alter OXPHOS efficiency and define individuals to specific mtDNA …
53 results