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Journal articles on the topic 'MtDNA haplogroup J'

Author: Grafiati

Published: 4 June 2021

Last updated: 14 February 2022

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1

Golubenko, M. V., A. V. Tsepokina, R. R. Salakhov, et al. "Mitochondrial DNA polymorphisms in individuals died from sudden cardiac death." Fundamental and Clinical Medicine 4, no. 4 (2019): 64–69. http://dx.doi.org/10.23946/2500-0764-2019-4-4-64-69.

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Aim. To identify associations of mtDNA polymorphisms with sudden cardiac death.Materials and Methods. DNA was isolated from the cardiac tissue excised during the autopsy from individuals who died from sudden cardiac death (n = 260). The frequencies of the most common European mtDNA haplogroups (H, U, T and J) were determined using restriction fragment length polymorphism analysis. In addition, we performed a comparative analysis using previously published data on mtDNA polymorphisms in the West Siberian population.Results. The distribution of mtDNA haplogroups in the patients who died from sud

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2

Nardelli, Carmela, Giuseppe Labruna, Rosario Liguori, et al. "Haplogroup T Is an Obesity Risk Factor: Mitochondrial DNA Haplotyping in a Morbid Obese Population from Southern Italy." BioMed Research International 2013 (2013): 1–5. http://dx.doi.org/10.1155/2013/631082.

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Mitochondrial DNA (mtDNA) haplogroups have been associated with the expression of mitochondrial-related diseases and with metabolic alterations, but their role has not yet been investigated in morbid obese Caucasian subjects. Therefore, we investigated the association between mitochondrial haplogroups and morbid obesity in patients from southern Italy. The mtDNA D-loop of morbid obese patients (n=500; BMI > 40 kg/m2) and controls (n=216; BMI < 25 kg/m2) was sequenced to determine the mtDNA haplogroups. The T and J haplogroup frequencies were higher and lower, respectively, in obese subje

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3

Torroni, Antonio, Kirsi Huoponen, Paolo Francalacci, et al. "Classification of European mtDNAs From an Analysis of Three European Populations." Genetics 144, no. 4 (1996): 1835–50. http://dx.doi.org/10.1093/genetics/144.4.1835.

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Mitochondrial DNA (mtDNA) sequence variation was examined in Finns, Swedes and Tuscans by PCR amplification and restriction analysis. About 99% of the mtDNAs were subsumed within 10 mtDNA haplogroups (H, I, J, K, M, T, U, V, W, and X) suggesting that the identified haplogroups could encompass virtually all European mtDNAs. Because both hypervariable segments of the mtDNA control region were previously sequenced in the Tuscan samples, the mtDNA haplogroups and control region sequences could be compared. Using a combination of haplogroup-specific restriction site changes and control region nucle

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4

Rego, I., M. Fernández-Moreno, C. Fernández-López, et al. "Role of European mitochondrial DNA haplogroups in the prevalence of hip osteoarthritis in Galicia, Northern Spain." Annals of the Rheumatic Diseases 69, no. 01 (2009): 210–13. http://dx.doi.org/10.1136/ard.2008.105254.

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Objective:To analyse the mitochondrial DNA (mtDNA) haplogroups of patients with hip osteoarthritis (OA) and those of healthy controls in a Spanish population.Methods:mtDNA haplogroups were assigned to 550 cases of hip OA and 505 clinically asymptomatic controls. Sets of controls with healthy knees and hips (n = 179) and patients with knee and/or hip OA (n = 977) were also analysed in a multivariate analysis after adjusting for sex, age and smoking.Results:Individuals carrying haplogroup J showed a significantly decreased risk of developing hip OA (OR 0.661; 95% CI 0.440 to 0.993; p = 0.045). I

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5

Houshmand, M., M. H. Sanati, F. Babrzadeh, et al. "Population screening for association of mitochondrial haplogroups BM, J, K and M with multiple sclerosis: interrelation between haplogroup J and MS in Persian patients." Multiple Sclerosis Journal 11, no. 6 (2005): 728–30. http://dx.doi.org/10.1191/1352458505ms1228sr.

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Background: Multiple sclerosis (MS) is an immunological inflammatory disease of the central nervous system (CNS) which is chronically observed in young adults. On the basis of earlier studies, potential relatedness between MS and mitochondrial DNA (mtDNA) mutations was postulated. Materials and methods: 246 individuals were screened using the PCR-RFLP method, including 70 MS patients examined for mitochondrial haplogroups BM, J, K and M and 176, 149 and 70 normal controls examined for haplogroups BM and M, J and K, respectively. Results and discussion: Our analysis revealed a relatively high p

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6

Poynter, Jenny N., Michaela Richardson, Erica Langer, et al. "Association Between Mitochondrial DNA Haplogroup and Myelodysplastic Syndromes." Blood 126, no. 23 (2015): 2885. http://dx.doi.org/10.1182/blood.v126.23.2885.2885.

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Abstract Background Polymorphisms in mitochondrial DNA can be used to group individuals into haplogroups that reflect human global migration. These mitochondrial variants are associated with differences in mitochondrial function and have been associated with multiple diseases, including cancer. In this analysis, we evaluated the association between mtDNA haplogroup and risk of myelodysplastic syndromes (MDS). Methods Cases were identified by rapid case ascertainment through the population-based Minnesota Cancer Surveillance System (MCSS). Participants were recruited to the MDS study if they we

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7

Golubenko, M. V., V. S. Mikhaylov, and E. V. Zaklyazminskaya. "The study on the modifying role of mitochondrial DNA polymorphism in the Brugada syndrome manifestation." Almanac of Clinical Medicine 47, no. 1 (2019): 66–71. http://dx.doi.org/10.18786/2072-0505-2019-47-007.

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Background: Brugada syndrome is a hereditary disease with genetic and phenotypic variability characterized by a high risk for arrhythmia and sudden cardiac death. It is assumed that modifying genetic factors contribute to the variability of the phenotype. Mitochondrial DNA (mtDNA) polymorphism can be considered among such factors, since mitochondrial dysfunction, including that associated with mtDNA variants, can have an arrhythmogenic effect. Aim: To study possible association between mtDNA polymorphism with the phenotype in the Russian patients with Brugada syndrome. Materials and methods: W

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Ball, Amy L., Katarzyna M. Bloch, Lucille Rainbow, et al. "Assessment of the impact of mitochondrial genotype upon drug-induced mitochondrial dysfunction in platelets derived from healthy volunteers." Archives of Toxicology 95, no. 4 (2021): 1335–47. http://dx.doi.org/10.1007/s00204-021-02988-3.

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AbstractMitochondrial DNA (mtDNA) is highly polymorphic and encodes 13 proteins which are critical to the production of ATP via oxidative phosphorylation. As mtDNA is maternally inherited and undergoes negligible recombination, acquired mutations have subdivided the human population into several discrete haplogroups. Mitochondrial haplogroup has been found to significantly alter mitochondrial function and impact susceptibility to adverse drug reactions. Despite these findings, there are currently limited models to assess the effect of mtDNA variation upon susceptibility to adverse drug reactio

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9

Kozin, M. S., O. G. Kulakova, I. S. Kiselev, O. P. Balanovsky, A. N. Boyko, and O. O. Favorova. "Variants of Mitochondrial Genome and Risk of Multiple Sclerosis Development in Russians." Acta Naturae 10, no. 4 (2018): 79–86. http://dx.doi.org/10.32607/20758251-2018-10-4-79-86.

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For the first time in the history of ethnic Russians, an association analysis the development of multiple sclerosis (MS) was performed for the mitochondrial haplogroups H, J, K, and U, as well as for the individual mitochondrial DNA (mtDNA) polymorphisms discriminating these haplogroups (m.1719G A, m. 7028C T, m.9055G A, m.10398A G, m.12308A G). A total of 283 unrelated patients with the relapsing-remitting form of MS and 290 healthy controls were enrolled in the study. Association of haplogroup J with MS was observed (P = 0.0055, OR = 2.00 [95% CI 1.21-3.41]). After gender stratification, the

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10

Fernández-Moreno, Mercedes, Angel Soto-Hermida, María E. Vázquez-Mosquera, et al. "Mitochondrial DNA haplogroups influence the risk of incident knee osteoarthritis in OAI and CHECK cohorts. A meta-analysis and functional study." Annals of the Rheumatic Diseases 76, no. 6 (2016): 1114–22. http://dx.doi.org/10.1136/annrheumdis-2016-210131.

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ObjectiveTo evaluate the influence of the mitochondrial DNA (mtDNA) haplogroups in the risk of incident knee osteoarthritis (OA) and to explain the functional consequences of this association to identify potential diagnostic biomarkers and therapeutic targets.MethodsTwo prospective cohorts contributed participants. The osteoarthritis initiative (OAI) included 2579 subjects of the incidence subcohort, and the cohort hip and cohort knee (CHECK) included 635, both with 8-year follow-up. The analysis included the association of mtDNA haplogroups with the rate of incident knee OA in subjects from b

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11

Aljasmi, Fatma A., Ranjit Vijayan, Naganeeswaran Sudalaimuthuasari, et al. "Genomic Landscape of the Mitochondrial Genome in the United Arab Emirates Native Population." Genes 11, no. 8 (2020): 876. http://dx.doi.org/10.3390/genes11080876.

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In order to assess the genomic landscape of the United Arab Emirates (UAE) mitogenome, we sequenced and analyzed the complete genomes of 232 Emirate females mitochondrial DNA (mtDNA) within and compared those to Africa. We investigated the prevalence of haplogroups, genetic variation, heteroplasmy, and demography among the UAE native population with diverse ethnicity and relatively high degree of consanguinity. We identified 968 mtDNA variants and high-resolution 15 haplogroups. Our results show that the UAE population received enough gene flow from Africa represented by the haplogroups L, U6,

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12

Samanic, Claudine, Jamie Teer, Zachary Thompson, et al. "EPID-10. MITOCHONDRIAL DNA SEQUENCE VARIATION AND RISK OF GLIOMA." Neuro-Oncology 22, Supplement_2 (2020): ii80. http://dx.doi.org/10.1093/neuonc/noaa215.328.

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Abstract Malignant gliomas are the most common primary adult brain tumors, with poor prognosis and ill-defined etiology. Mitochondrial DNA (mtDNA) sequence variants and haplogroups have been linked with certain cancers, but research on glioma is lacking. We examined the association of germline mtDNA variants and haplogroups with glioma risk in 1,654 glioma cases and 1,065 controls from a US case-control study, and 427 glioma cases and 1,541 controls from the UK Biobank, all genotyped using the UKBiobank array with 276 tiled mtDNA variants. The analysis was restricted to participants of Europea

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13

Cano, D., C. F. Gomez, N. Ospina, et al. "Mitochondrial DNA Haplogroups and Susceptibility to Prostate Cancer in a Colombian Population." ISRN Oncology 2014 (January 28, 2014): 1–11. http://dx.doi.org/10.1155/2014/530675.

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Prostate cancer (PC) is one of the most common cancers and the second leading cause of mortality from cancer in Colombian men. Mitochondrial DNA (mtDNA) haplogroups have been associated with the risk of PC. Several studies have demonstrated dramatic differences regarding the risk of PC among men from different ethnic backgrounds. The present study was aimed at assessing the relationship between mtDNA haplogroups and PC. The mitochondrial DNA hypervariable segment I (HSV-1) was sequenced in a population-based study covering 168 cases (CA) and 140 unrelated healthy individuals as a control group

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14

Pope, A. M., S. M. Carr, K. N. Smith, and H. D. Marshall. "Mitogenomic and microsatellite variation in descendants of the founder population of Newfoundland: high genetic diversity in an historically isolated population." Genome 54, no. 2 (2011): 110–19. http://dx.doi.org/10.1139/g10-102.

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The island of Newfoundland, the first of England’s overseas colonies, was settled from the 17th century onward by restricted numbers of English, Irish, and French immigrants, in small “outport” communities that have maintained geographic, religious, and linguistic isolation to the latest generations. To measure the extent of modification and loss of genetic variation through founder effect, drift, and inbreeding in this historically isolated population, we analyzed the complete mitochondrial DNA (mtDNA) genomes and 14 microsatellite loci from each of 27 individuals with matrilineal ancestries

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15

Reynier, Pascal, Isabelle Penisson-Besnier, Corinne Moreau, et al. "mtDNA haplogroup J: a contributing factor of optic neuritis." European Journal of Human Genetics 7, no. 3 (1999): 404–6. http://dx.doi.org/10.1038/sj.ejhg.5200293.

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16

Ahmić, Adisa, Rifat Hadžiselimović, Elma Silajdžić, Irma Mujkić, and Naris Pojskić. "MtDNA variations in three main ethnic populations in Tuzla Canton of Bosnia and Herzegovina." Genetics & Applications 3, no. 1 (2019): 14. http://dx.doi.org/10.31383/ga.vol3iss1pp14-23.

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This study was designed on the analysis of the mtDNA polymorphisms in three ethnic populations of Tuzla Canton of Bosnia and Herzegovina (Bosniaks, Croats and Serbs). The main aim of this study was to analyze the influences of the maternal gene flow on the genetic profile of the analyzed populations. The analysis of mtDNA variation based on relevant restriction fragment length polymorphisms (RFLP) in combination with HVSI variations of the control region (for detection of subhaplogroups of the haplogroup U) enabled the identification of the typical of the Western-Eurasian haplogroups (H, I, J,

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17

Rose, Giuseppina, Giuseppe Passarino, Giuseppina Carrieri, et al. "Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians." European Journal of Human Genetics 9, no. 9 (2001): 701–7. http://dx.doi.org/10.1038/sj.ejhg.5200703.

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18

Piotrowska-Nowak, Agnieszka, Maciej R. Krawczyński, Ewa Kosior-Jarecka, et al. "Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation." Metabolic Brain Disease 35, no. 8 (2020): 1317–27. http://dx.doi.org/10.1007/s11011-020-00605-3.

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Abstract Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with symptoms limited to a single tissue, optic nerve, resulting in vision loss. In the majority of cases it is caused by one of three point mutations in mitochondrial DNA (mtDNA) but their presence is not sufficient for disease development, since ~50% of men and ~10% women who carry them are affected. Thus additional modifying factors must exist. In this study, we use next generation sequencing to investigate the role of whole mtDNA variation in male Polish patients with LHON and m.11778G > A, the most frequent L

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Boyko, A. N., M. S. Kozin, G. Zh Osmak, O. G. Kulakova, and O. O. Favorova. "Mitochondrial genome and risk of multiple sclerosis." Neurology, Neuropsychiatry, Psychosomatics 11, no. 3 (2019): 43–46. http://dx.doi.org/10.14412/2074-2711-2019-3-43-46.

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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 hi

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Rego, I., M. Fernández-Moreno, C. Fernández-López, et al. "370 THE mtDNA HAPLOGROUP J IS A PROTECTIVE FACTOR TO HIP AND KNEE OSTEOARTHRITIS." Osteoarthritis and Cartilage 16 (September 2008): S159. http://dx.doi.org/10.1016/s1063-4584(08)60411-2.

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21

Domínguez-Garrido, Elena, Diana Martínez-Redondo, Carmen Martín-Ruiz, et al. "Association of mitochondrial haplogroup J and mtDNA oxidative damage in two different North Spain elderly populations." Biogerontology 10, no. 4 (2008): 435–42. http://dx.doi.org/10.1007/s10522-008-9186-y.

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22

Koilkonda, Rajeshwari D., and John Guy. "Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside." Journal of Ophthalmology 2011 (2011): 1–16. http://dx.doi.org/10.1155/2011/179412.

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Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disorder caused by point mutations in mitochondrial DNA (mtDNA). Most cases are due to mutations in genes encoding subunits of the NADH-ubiquinone oxidoreductase that is Complex I of the electron transport chain (ETC). These mutations are located at nucleotide positions 3460, 11778, or 14484 in the mitochondrial genome. The disease is characterized by apoplectic, bilateral, and severe visual loss. While the mutated mtDNA impairs generation of ATP by all mitochondria, there is only a selective loss of retinal ganglion cells

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23

Malyarchuk, B. A. "Sources of the mitochondrial gene pool of Russians by the results of analysis of modern and paleogenomic data." Vavilov Journal of Genetics and Breeding 23, no. 5 (2019): 588–93. http://dx.doi.org/10.18699/vj19.529.

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Paleogenomic studies of recent years have shown that the Bronze Age migrations of populations of the PontoCaspian steppes from the east to the west of Europe had a great influence on the formation of the genetic makeup of modern Europeans. The results of studies of the variability of mitochondrial genomes in the modern Russian populations of Eastern Europe also made it possible to identify an increase in the effective population size during the Bronze Age, which, apparently, could be related to the migration processes of this time. This paper presents the results of analysis of data on the var

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24

Howell, Neil, Corinna Herrnstadt, Cliff Shults, and David A. Mackey. "Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background." American Journal of Medical Genetics 119A, no. 2 (2003): 147–51. http://dx.doi.org/10.1002/ajmg.a.20135.

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25

Rego-Pérez, I., M. Tamayo, Á. Soto-Hermida, et al. "37 THE mtDNA HAPLOGROUP J MODULATES THE NITRIC OXIDE (NO) PRODUCTION AND TELOMERE LENGTH. ROLE IN OSTEOARTHRITIS (OA)." Osteoarthritis and Cartilage 19 (September 2011): S23. http://dx.doi.org/10.1016/s1063-4584(11)60064-2.

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26

Moilanen, J. S. "Lineage-Specific Selection in Human mtDNA: Lack of Polymorphisms in a Segment of MTND5 Gene in Haplogroup J." Molecular Biology and Evolution 20, no. 12 (2003): 2132–42. http://dx.doi.org/10.1093/molbev/msg230.

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27

Brown, Michael D., Elena Starikovskaya, Olga Derbeneva, et al. "The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J." Human Genetics 110, no. 2 (2002): 130–38. http://dx.doi.org/10.1007/s00439-001-0660-8.

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28

Heulin, Benoit, Yann Surget-Groba, Barry Sinervo, Donald Miles, and Annie Guiller. "Dynamics of haplogroup frequencies and survival rates in a contact zone of two mtDNA lineages of the lizard Lacerta vivipara." Ecography 34, no. 3 (2010): 436–47. http://dx.doi.org/10.1111/j.1600-0587.2010.06540.x.

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29

Fernández-Moreno, M., T. Hermida-Gόmez, A. Soto-Hermida, et al. "THU0017 In Vitro Studies Using Cybrids Show that Mtdna Haplogroup J and H have Different Mitochondrial Activity. A Possible Explanation to OA Pathogenesis." Annals of the Rheumatic Diseases 74, Suppl 2 (2015): 198.3–199. http://dx.doi.org/10.1136/annrheumdis-2015-eular.3350.

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30

Fernandez-Moreno, M., T. Hermida-Gomez, A. Soto-Hermida, et al. "In vitro studies show that MTDNA haplogroup J and H are associated with different metabolic and inflammatory profile. A possible explanation to OA pathogenesis." Osteoarthritis and Cartilage 23 (April 2015): A155. http://dx.doi.org/10.1016/j.joca.2015.02.909.

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31

Rose, G., T. Longo, R. Maletta, G. Passarino, A. C. Bruni, and G. De Benedictis. "No evidence of association between frontotemporal dementia and major European mtDNA haplogroups." European Journal of Neurology 15, no. 9 (2008): 1006–8. http://dx.doi.org/10.1111/j.1468-1331.2008.02222.x.

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32

Grignani, P., C. Turchi, A. Achilli, et al. "Multiplex mtDNA coding region SNP assays for molecular dissection of haplogroups U/K and J/T." Forensic Science International: Genetics 4, no. 1 (2009): 21–25. http://dx.doi.org/10.1016/j.fsigen.2009.04.001.

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33

PEREIRA, LUÍSA, JOÃO GONÇALVES, ANA GOIOS, TIAGO ROCHA, and ANTÓNIO AMORIM. "Human mtDNA haplogroups and reduced male fertility: real association or hidden population substructuring." International Journal of Andrology 28, no. 4 (2005): 241–47. http://dx.doi.org/10.1111/j.1365-2605.2005.00539.x.

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34

Cieslak, Jakub, Lukasz Wodas, Alicja Borowska, Ernest G. Cothran, Anas M. Khanshour, and Mariusz Mackowski. "Characterization of the Polish Primitive Horse (Konik) maternal lines using mitochondrial D-loop sequence variation." PeerJ 5 (August 24, 2017): e3714. http://dx.doi.org/10.7717/peerj.3714.

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The Polish Primitive Horse (PPH, Konik) is a Polish native horse breed managed through a conservation program mainly due to its characteristic phenotype of a primitive horse. One of the most important goals of PPH breeding strategy is the preservation and equal development of all existing maternal lines. However, until now there was no investigation into the real genetic diversity of 16 recognized PPH dam lines using mtDNA sequence variation. Herein, we describe the phylogenetic relationships between the PPH maternal lines based upon partial mtDNA D-loop sequencing of 173 individuals. Altogeth

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35

Malik, Deepika, Tiffany Hsu, Payam Falatoonzadeh, et al. "Human Retinal Transmitochondrial Cybrids with J or H mtDNA Haplogroups Respond Differently to Ultraviolet Radiation: Implications for Retinal Diseases." PLoS ONE 9, no. 6 (2014): e99003. http://dx.doi.org/10.1371/journal.pone.0099003.

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Kiiskilä, Jukka, Jukka S. Moilanen, Laura Kytövuori, Anna-Kaisa Niemi, and Kari Majamaa. "Analysis of functional variants in mitochondrial DNA of Finnish athletes." BMC Genomics 20, no. 1 (2019). http://dx.doi.org/10.1186/s12864-019-6171-6.

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Abstract Background We have previously reported on paucity of mitochondrial DNA (mtDNA) haplogroups J and K among Finnish endurance athletes. Here we aimed to further explore differences in mtDNA variants between elite endurance and sprint athletes. For this purpose, we determined the rate of functional variants and the mutational load in mtDNA of Finnish athletes (n = 141) and controls (n = 77) and determined the sequence variation in haplogroups. Results The distribution of rare and common functional variants differed between endurance athletes, sprint athletes and the controls (p = 0.04) so

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Fernández-Moreno, Mercedes, María Tamayo, Angel Soto-Hermida, et al. "mtDNA haplogroup J Modulates telomere length and Nitric Oxide production." BMC Musculoskeletal Disorders 12, no. 1 (2011). http://dx.doi.org/10.1186/1471-2474-12-283.

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Kiiskilä, Jukka, Jari Jokelainen, Laura Kytövuori, et al. "Association of mitochondrial DNA haplogroups J and K with low response in exercise training among Finnish military conscripts." BMC Genomics 22, no. 1 (2021). http://dx.doi.org/10.1186/s12864-021-07383-x.

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AbstractBackgroundWe have previously suggested that some of the mutations defining mitochondrial DNA (mtDNA) haplogroups J and K produce an uncoupling effect on oxidative phosphorylation and thus are detrimental for elite endurance performance. Here, the association between haplogroups J and K and physical performance was determined in a population-based cohort of 1036 Finnish military conscripts.ResultsFollowing a standard-dose training period, excellence in endurance performance was less frequent among subjects with haplogroups J or K than among subjects with non-JK haplogroups (p = 0.041),

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Poole, Jason C., Vincent Procaccio, Martin C. Brandon, Greg Merrick, and Douglas C. Wallace. "Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants." Biological Chemistry 391, no. 10 (2010). http://dx.doi.org/10.1515/bc.2010.125.

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Abstract The mitochondrial DNA (mtDNA) encompasses two classes of functionally important sequence variants: recent pathogenic mutations and ancient adaptive polymorphisms. To rapidly and cheaply evaluate both classes of single nucleotide variants (SNVs), we have developed an integrated system in which mtDNA SNVs are analyzed by multiplex primer extension using the SNaPshot system. A multiplex PCR amplification strategy was used to amplify the entire mtDNA, a computer program identifies optimal extension primers, and a complete global haplotyping system is also proposed. This system genotypes S

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Quynh, Nguyen Thuy, Le Thi Thanh Nhan, Le Lan Phuong, et al. "Mitochondrial A10398G Alteration in Plasma Exosome of Non-small Cell Lung Cancer Patients." VNU Journal of Science: Medical and Pharmaceutical Sciences 36, no. 4 (2020). http://dx.doi.org/10.25073/2588-1132/vnumps.4275.

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This study identifies A10398G alteration of mitochondrial ND3 gene in plasma exosome of 29 non-small cell lung cancer (NSCLC) patients, 31 controls and 13 pairs of tumor tissue and adjacent tissue of NSCLC patients, thereby assessing the relationship between this alteration in plasma exosome and tissue as well as the pathological characteristics of NSCLC patients. Using the PCR-RFLP method, the homoplasmy and heteroplasmy of A10398G were initially identified in mitochondrial DNA from both exosomes and lung tissues. The rate of variant 10398G in plasma exosome was 62.1% in the NSCLC group and 6

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41

Nicholson, Crystal, Masaaki Ishii, Balasubramaniam Annamalai, et al. "J or H mtDNA haplogroups in retinal pigment epithelial cells: Effects on cell physiology, cargo in extracellular vesicles, and differential uptake of such vesicles by naïve recipient cells." Biochimica et Biophysica Acta (BBA) - General Subjects, November 2020, 129798. http://dx.doi.org/10.1016/j.bbagen.2020.129798.

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