18 results on '"Pliss, Liana"'
Search Results
2. Y-Chromosomal Lineages of Latvians in the Context of the Genetic Variation of the Eastern-Baltic Region
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Pliss, Liana, Timša, Līga, Rootsi, Siiri, Tambets, Kristiina, Pelnena, Inese, Zole, Egija, Puzuka, Agrita, Sabule, Areta, Rozane, Sandra, Lace, Baiba, Kucinskas, Vaidutis, Krumina, Astrida, Ranka, Renate, and Baumanis, Viesturs
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- 2015
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3. The western and eastern roots of the Saami--the story of genetic 'outliers' told by mitochondrial DNA and Y chromosomes
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Tambets, Kristiina, Rootsi, Siiri, Kivisild, Toomas, Help, Hela, Serk, Piia, Loogvali, Eva-Liis, Tolk, Helle-Viivi, Reidla, Maere, Metspalu, Ene, Pliss, Liana, Balanovsky, Oleg, Pshenichnov, Andrey, Balanovska, Elena, Gubina, Marina, Zhadanov, Sergey, Osipova, Ludmila, Damba, Larisa, Voevoda, Mikhail, Kutuev, Ildus, Bermisheva, Marina, Khusnutdinova, Elza, Gusar, Vladislava, Grechanina, Elena, Parik, Juri, Pennarun, Erwan, Richard, Christelle, Chaventre, Andre, Moisan, Jean-Paul, Barac, Lovorka, Pericic, Marijana, Rudan, Pavao, Terzic, Rifat, Mikerezi, Ilia, Krumina, Astrida, Baumanis, Viesturs, Koziel, Slawomir, Rickards, Olga, De Stefano, Gian Franco, Anagnou, Nicholas, Pappa, Kalliopi I., Michalodimitrakis, Emmanuel, Ferak, Vladimir, Furedi, Sandor, Komel, Radovan, Beckman, Lars, and Villems, Richard
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Samis -- Research ,Samis -- Genetic aspects ,Biological sciences - Published
- 2004
4. Dynamics of Telomere Length in Different Age Groups in a Latvian Population
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Zole, Egija, Pliss, Liana, Ranka, Renate, Krumina, Astrida, and Baumanis, Viesturs
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- 2013
5. Association studies of candidate genes and cleft lip and palate taking into consideration geographical origin
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Lace, Baiba, Kempa, Inga, Piekuse, Linda, Grinfelde, Ieva, Klovins, Janis, Pliss, Liana, Krumina, Astrida, and Vieira, Alexandre R.
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- 2011
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6. Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome
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Pelnena, Dita, primary, Burnyte, Birute, additional, Jankevics, Eriks, additional, Lace, Baiba, additional, Dagyte, Evelina, additional, Grigalioniene, Kristina, additional, Utkus, Algirdas, additional, Krumina, Zita, additional, Rozentale, Jolanta, additional, Adomaitiene, Irina, additional, Stavusis, Janis, additional, Pliss, Liana, additional, and Inashkina, Inna, additional
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- 2017
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7. Linkage between mitochondrial genome alterations, telomere length and aging population
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Zole, Egija, primary, Zadinane, Krista, additional, Pliss, Liana, additional, and Ranka, Renate, additional
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- 2017
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8. Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.
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Pelnena, Dita, Burnyte, Birute, Jankevics, Eriks, Lace, Baiba, Dagyte, Evelina, Grigalioniene, Kristina, Utkus, Algirdas, Krumina, Zita, Rozentale, Jolanta, Adomaitiene, Irina, Stavusis, Janis, Pliss, Liana, and Inashkina, Inna
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MITOCHONDRIAL DNA ,NUCLEOTIDE sequencing ,NEUROLOGICAL disorders ,LACTIC acidosis ,NEURODEGENERATION - Abstract
The most common mitochondrial disorder in children is Leigh syndrome, which is a progressive and genetically heterogeneous neurodegenerative disorder caused by mutations in nuclear genes or mitochondrial DNA (mtDNA). In the present study, a novel and robust method of complete mtDNA sequencing, which allows amplification of the whole mitochondrial genome, was tested. Complete mtDNA sequencing was performed in a cohort of patients with suspected mitochondrial mutations. Patients from Latvia and Lithuania (n = 92 and n = 57, respectively) referred by clinical geneticists were included. The de novo point mutations m.9185T>C and m.13513G>A, respectively, were detected in two patients with lactic acidosis and neurodegenerative lesions. In one patient with neurodegenerative lesions, the mutation m.9185T>C was identified. These mutations are associated with Leigh syndrome. The present data suggest that full-length mtDNA sequencing is recommended as a supplement to nuclear gene testing and enzymatic assays to enhance mitochondrial disease diagnostics. [ABSTRACT FROM AUTHOR]
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- 2018
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9. Linkage between mitochondrial genome alterations, telomere length and aging population.
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Zole, Egija, Zadinane, Krista, Pliss, Liana, and Ranka, Renate
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MITOCHONDRIA ,TELOMERES ,MITOCHONDRIAL DNA ,DNA copy number variations ,LATVIANS ,CAUCASIAN race - Abstract
We studied telomere length (TL) and mitochondrial DNA (mtDNA) copy number variations in individuals from Latvian Caucasian population in different age groups. We showed a positive correlation between TL and mtDNA copy number in individuals of up to 90 years of age; however, this correlation was not observed in the 90-100 years age group. While TL shortened with age and mtDNA content decreased with increasing age, in this study it was observed that mtDNA copy number in nonagenarians was slightly higher than in the 60-89 years age group. The presence of heteroplasmy in the mtDNA HVS-I control region did not correlate with TL and mtDNA copy number. TL and mtDNA values also did not differ between mitochondrial haplogroups. In conclusion, while both TL and mtDNA are involved in the aging process and link between these cell components exists, nonagenarians may have differences in senescence-related pathways and systems, which may function as a protective mechanism that allows them to live longer. [ABSTRACT FROM AUTHOR]
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- 2018
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10. Comparison of telomere length between population-specific mitochondrial haplogroups among different age groups in a Latvian population
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Zole, Egija, primary, Elferts, Didzis, additional, Kimsis, Janis, additional, Krumina, Astrida, additional, Narels, Kristaps, additional, Pole, Ilva, additional, Ranka, Renate, additional, and Pliss, Liana, additional
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- 2015
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11. Promocijas darbs
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Pliss, Liana, Dr.biol. Viesturs Baumanis, Bioloģijas fakultāte, Baumanis, Viesturs, and Latvijas Universitāte. Bioloģijas fakultāte
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Dzīvās dabas zinātnes ,Bioloģija - Abstract
Elektroniskā versija nesatur pielikumus, Pliss L. 2007. Mitohondriālās DNS (mtDNS) polimorfismi latviešu etnoģenēzes pētījumos. Latvijas Universitāte, Rīga, 81 lpp. KOPSAVILKUMS Cilvēka mitohondriju genomu (mtDNS) šodien plaši lieto, lai aprakstītu cilvēka populācijas izcelsmi un migrācijas virzienus. Mitohondriālās DNS variāciju kartēšana Āzijā, Amerikā, Āfrikā un Eiropā dod ieskatu par cilvēka populācijas izplatīšanās virzieniem un izkliedi pasaulē. mtDNS īpatnības (maternālā pārmantošana, rekombināciju trūkums) ļauj pēc reģistrētajām mutācijām izsekot cilvēces vēstures ģenealoģiju. Šī ģenealoģija dod iespēju analizēt cilvēka populācijas vēsturi, pirmsvēsturi un prognozēt to attīstību. Liela mēroga Eiropas populāciju mtDNS daudzveidības pētījumi galvenokārt tika veikti tās Rietumu un Centrālās daļās. Tomēr, pēdējo gadu laikā sāka parādīties dati par mitohondriālo variantu dažādību Austrumu Eiropas un slāvu valodās runājošās populācijās. Līdz šim laikam, divās baltu valodās runājošās tautas – latviešos un lietuviešos - populāciju ģenētikas pētījumi tika veltīti pārsvarā tikai autosomālo jeb klasisko ģenētisko marķieru (piemēram, TF*DCH1, PI, LWb) analīzēm un Y hromosomas polimorfismu variācijām. Tādēļ, Latvijas populācijas mitohondriju ģenētiskā heterogenitāte, salīdzinot to ar citu Eiropas populāciju datiem, ir aktuāls ģenētisko pētījumu virziens. Šī darba galvenais mērķis bija atrast un analizēt iedzimto mtDNS variāciju sastopamību Latvijas populācijā un tās etnolingvistiskajās grupās, kā arī veikt daudzpusīgo filoģeogrāfisko analīzi inter- un intra – populāciju līmenī, lai izprastu mtDNS polimorfismu ģenētiskās daudzveidības izcelsmi un to raksturu Latvijas populācijā. Tādā veidā novērota maternālo līniju ģenētiskā struktūra var sniegt informāciju par Latvijas populācijas etnoģenēzi. Šai darbā tika veikta mtDNS variāciju analīze Latvijas populācijā un tās etnolingvistiskajās grupās (analizēto paraugu skaits – 351), pielietojot molekulārās bioloģijas metodes, statistiskās un filoģenētiskās analīzes. Populāciju salīdzinājuma analīzē tika izmantota dažādu Eirāzijas populāciju plašā mtDNS datu bāze (publicēto 11,236 tūkstošu paraugu un nepublicēto 4,732 tūkstošu paraugu mtDNS datu bāze). Balstoties uz vairāku analīžu datiem, iegūtā mtDNS variāciju izplatības biežuma sastopamība dažādos Latvijas reģionos tika salīdzināta ar lingvistisko un antropoloģisko pētījumu rezultātiem. Konstatēts mtDNS ģenētisko variantu iekšējais migrācijas virziens no Latvijas austrumu/dienvidaustrumu daļas (Latgales) uz ziemeļrietumu un centrālo daļu, un noskaidrotais ģenētisko variāciju plūsmas virziens ir saskaņā ar eksistējošiem arheoloģiskajiem datiem. Tika veikta Latvijas populācijā atrasto mtDNS variāciju plaša mēroga filoģeogrāfiskā analīze, kā arī aprakstīta ģenētiskā saistība ar citām Eiropas populācijām (gan indoeiropiešu valodās runājošajām, gan somu – ugru valodās runājošajām populācijām). Parādīts, ka, balstoties uz mtDNS „haplotipu – līdzības” analīzes rezultātiem starp baltu, ģermāņu, slāvu, un somu – ugru valodās runājošajām populācijām, lielākā novēroto mtDNS haplotipu daļa Latvijas populācijā ir līdzīga vai pat identiska ar konstatētajiem mtDNS variantiem citās Austrumu un Rietumu Eiropas populācijās neatkarīgi no populāciju ģeogrāfiskās vai lingvistiskās piederības. Iegūtie rezultāti liecina par kopīgu Eiropas populācijās eksistējošo mtDNS variantu izcelsmi. Izveidots priekšstats par Latvijas populācijā esošo mtDNS ģenētisko variabilitāti var kalpot kā papildus informācijas avots turpmākajiem ģenētisko asociāciju pētījumiem: dažādu fenotipisko izpausmju saistību ar mtDNS polimorfismiem, kā arī būs iespējams veikt ar mitohondriālo iedzimtību saistīto ģenētisko slimību (optiskā neiropātija, miopātija, encefalomiopātija u.c.) diagnostiku, kas Latvijā pagaidām netiek veikta. mtDNS mutāciju detektēšana dažādās vecuma grupās ļaus noskaidrot mitohondriālā genoma polimorfismu lomu novecošanās, kā arī to saistību ar mtDNS replikāciju un transkripciju. Promocijas darbs ir izst, Pliss L. 2007. Mitochondrial DNA (mtDNA) variation and its role in ethnogenesis of Latvians. 81 pp. SUMMARY Variation in the human mitochondrial genome is now routinely described and used to infer the origin and migration patterns in human populations as well as range of expansions and gene flow during the prehistory. Mapping of the variation in the modern mtDNA landscape of Asia, America and Europe is shedding the light on the patterns of colonization and dispersal of peoples in the world. Due to the mode of inheritance and mutation rate of mtDNA the mutations that have struck throughout human history trace the maternal genealogy. This genealogy can be used in attempt to make inferences about prehistoric processes of human populations. Large-scale studies of European mtDNA diversity have been mostly concentrated on Western and Central European populations. In the last few years, data on maternal lineages from Eastern European and Slavonic-speaking populations have started to emerge. So far, population genetic studies of the two extant Baltic-speaking populations – Latvians and Lithuanians, who form a separate branch of the Indo-European language family tree – have mostly touched on the variation of autosomal or classical genetic markers (e.g. TF*DCH1, PI, LWb) and the pattern of spread of Y-chromosomal variation. Therefore, genetic differentiation within the Latvian population and the relationships between it and other European populations are aspects that require further detailed study. The main goal of the present study was to obtain the knowledge about mtDNA variation in Latvia and its sub-populations, and further to perform a large-scale phylogeographic analysis at inter- and intra-population level in order to understand the origin and rise of the genetic diversity of Latvian mtDNA lineages. The analysis of the mtDNA variation in the Latvian population as a whole and it subpopulations (sample size – 351 individuals) has been performed using methods of molecular biology, statistical and phylogenetic approaches. For comparison, the mtDNA database of 11,236 individuals, consisting of published mtDNA data as well as unpublished mtDNA data from 4,732 individuals from different Eurasian populations were used as background information for the analysis. Based on results of the different analyses observed mtDNA variation distribution in Latvian regions was compared with linguistic and anthropological research data. The genetic trace of the forced internal migration movement from eastern/south-eastern region (Lettigalia) towards the north-western and central parts of the country can be seen based on mtDNA variation, and is in accordance with archaeological data. In order to find out genetic relationship with other European populations (Indo-European- and Finno-Ugric-speaking populations) the large-scale phylogeographic analysis of the revealed mtDNA variation distribution in Latvian population was undertaken. The HVS-I haplotype-sharing analysis among Baltic-, Germanic-, Slavonic-, and Finno-Ugric-speaking populations have showed that the vast majority of mtDNA haplotypes found among Latvians are identical to, or close derivatives of, those observed in other Eastern and Western European populations, irrespective of the linguistic affiliations of the latter. Pattern of mtDNA lineages and its variation distribution across Eastern European populations indicate on or most likely reflect an ancient and largely common heritage of European populations. Established notion of the Latvian mtDNA genetic variability further can be used in case-control association studies: possible connection of different phenotypical manifestations with mitochondrial variability in Latvian population (inherited mitochondrial disorders, e.g. Leber’s hereditary optic neuropathy (LHON) and chronic progressive external ophtalmoplegia (CPEO). In the future we can implement the association study on mtDNA variation spread and its molecular characteristics in two
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- 2007
12. Towards a comprehensive understanding of the East European mtDNA heritage in its phylogeographic context
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Khusnutdinova, Elza, Bermisheva, Marina, Malyarchuk, Boris, Derenko, Miroslava, Balanovsky, Oleg, Balanovska, Elena, Spitsyn, Viktor. A, Osipova, Ludmila, Gubina, Marina, Zhadanov, Sergei, Damba, Larissa, Voevoda, Mikhail, Stepanov, Vadim, Golubenko, Maria, Puzyrev, Valery, Pliss, Liana, Krumina, Astridis, Baumanis, Viestus, Barac, Lovorka, Pericic, Marijana, Rudan, Pavao, Beckman, Lars, Tolk, Helle-Viivi, Tambets, Kristiina, Kivisild, Toomas, Reidla, Maere, Metspalu, Ene, Parik, Juri, Villems, Richard, Gusar, Vladislava, and Fedorova, Sardana
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mtDNA ,phylogeographic analysis ,East Europe - Abstract
The East European Plain, in particular its southern steppes, is an integral part of the great steppe belt extending from Pacific to Atlantic. The forest zone is almost as widely spread while tundra extends from northeast Europe to Beringia. Since early Aurignacian to recent times, this area has been a showground of demographic movements of great importance. We present a detailed phylogeographic analysis of about 12, 000 mtDNAs, sampled all over the eastern Europe and the bordering areas in Scandinavia, Siberia, Central Asia, the North Caucasus and among western and southern Slavs and comprises virtually all extant Samoyedic, Ugric and Volga-Finnic populations, 16 different Turkic and several Tungusic and Mongolic speaking populations and linguistic isolates such as Kets and covers ~3000 Turkic, ~3000 Uralic speakers and ~500 Scandinavians and ~800 North Caucasus people, altogether from 39 populations. Median networks (HVR/HVR-I & II plus extensive coding region analysis) for all populations were constructed and used for comparative frequency and diversity analysis of maternal lineages alongside the steppe belt and beyond, specifically as far as the south-north/north-south gene flows are concerned, between the steppe and forest>tundra zones, and equally importantly, between the steppe belt and Anatolia, South Caucasus, the Near and Middle East. Gradients of the spread of western and eastern Eurasian mtDNA variants were analyzed in conjunction with the spread of Altaic, Uralic, Indo-European, Caucasian and Palaeosiberian languages.
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- 2002
13. Mitochondrial DNA origins of the Latvian clefting population
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Vieira, Alexandre R., primary, Pliss, Liana, additional, Pelnena, Inese, additional, Krumina, Astrida, additional, Baumanis, Viesturs, additional, and Lace, Baiba, additional
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- 2011
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14. Interrelation of mitochondrial DNA and telomere length alterations in ageing human population
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Zole, Egija, Ranka, Renāte, Pliss, Liana, and Latvijas Universitāte. Bioloģijas fakultāte
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Bioloģija ,Biology ,Molecular Biology ,Molekulārā bioloģija - Abstract
Līdz šim nav veikti pētījumi Latvijas populācijā, kas aprakstītu telomēru garuma (TG) un mitohondriālā DNS (mtDNS) izmaiņas, un to saistību novecošanas procesā. Tas ir zināms, ka telomēri un mitohondriji ir savā starpā saistīti un virza izmaiņas šūnu līmenī novecojot. Šie signāl-ceļi var būt atkarīgi no nelielām izmaiņām kodola DNS vai mtDNS, novedot pie paātrinātas novecošanās vai slimībām. Savā darbā esmu apstiprinājusi, ka šie divi šūnu komponenti ir svarīgi un ir saistīti ar novecošanos. Kā arī parādīju, ka TG un mtDNS izmaiņas ir savādākas cilvēkiem, kuri nodzīvo pāri 90 gadiem. Kā arī, ka labdabīgas vai nelielas mtDNS sekvenču izmaiņas neietekmē TG, mtDNS daudzumu asins šūnās vai ilgdzīvotību cilvēkiem mūsu paraugu kopā. Ņemot vērā, ka atsevišķi citu autoru pētījumi ir parādījuši šādu ietekmi, tas var liecināt, ka šo faktoru ietekme varētu būt populāciju specifiska. Nākotnē būtu svarīgi veikt plaša mēroga pētījumus dažādās populācijās, lai apstiprinātu šos rezultātus., Until now, there were no studies about a possible interplay between dynamics of telomere length (TL) and mitochondrial DNA (mtDNA) during the ageing process in Latvian population. It is a well-known fact by now that telomeres and mitochondria is connected and possibly drives the ageing process. These pathways are influenced by small differences in our nuclear DNA or mtDNA that can lead to accelerated ageing or diseases. During my work I have confirmed results that both mtDNA and telomeres-related factors are indeed connected with our longevity. But I also have shown that this connection of TL and mtDNA alterations is different and not as clear for the very old. During my research I did not see that benign and small differences of mtDNA are related to the TL, the total amount of mtDNA or age for individuals in our sample cohort, but some studies have shown such effects and that is why these could be population specific traits. Large studies in different populations are required to confirm these findings.
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- 2018
15. Y hromosomas ģenētisko variāciju salīdzinājums baltu un austrumslāvu populācijās
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Eihentāle, Alma, Pliss, Liana, and Latvijas Universitāte. Bioloģijas fakultāte
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bialēliskie marķieri ,PCA ,balti ,Bioloģija ,austrumslāvi ,haplogrupas - Abstract
Maģistra darbs ir veltīts austrumslāvu populāciju Y hromosomas ģenētiskās struktūras īpatnību noteikšanai un iegūto rezultātu salīdzinājumam ar baltu un ziemeļaustrumu Eiropas populācijām. Pētījuma ietvaros tika noteikta Y hromosomas haplogrupu izplatība Kijevas un Novgorodas apgabala populācijās. Iegūtie rezultāti norāda, ka Kijevas apgabalā visizplatītākā haplogrupa ir R1a (39,71%), bet Novgorodas apgabalā – N1c (74,32%). Detalizējot rezultātus ar PCA un filoģenētisko Neighbour-Joining analīzi, tika noteikts, ka Novgorodas apgabala populācija ģenētiski atrodas vistuvāk somiem augstās N1c haplogrupas izplatības dēļ, savukārt, pēc R1a-M558 atzara izplatības pētītajā teritorijā, autore secina par austrumslāvu un baltu ģenētisko radniecību., In Master Thesis entitled “A comparison of the genetic variation of the Y chromosome in East Slavic and Baltic populations” East Slavic population Y chromosome genetic structure was determined and results compared with Balts and North-eastern Europe populations. Y chromosome haplogroup distribution was determined for two populations from Kiev and Novgorod districts. Obtained results showed that most prevalent haplogroup in Kiev district is R1a (39,71%), but in Novgorod district – N1c (74,32%). Detailed PCA, phylogenetic Neighbour-Joining analysis and R1a-M558 branch genotyping showed genetic admixture between Balts and East Slavs.
- Published
- 2016
16. Subtelomēru rajona hromatīna struktūras izmaiņu noteikšana ar qPCR
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Narels, Kristaps, Pliss, Liana, and Latvijas Universitāte. Bioloģijas fakultāte
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qPCR ,Subtelomēri ,FISH ,duplikācijas ,delēcijas ,Bioloģija - Abstract
Cilvēka subtelomēri ir izteikti polimorfiski un ir ar vislielāko gēnu blīvumu visā genomā. Subtelomēru sekvences pārmaiņas ir saistītas ar mentālo atpalicību, ļaundabīgām hematoloģiskajām slimībām, atkārtotiem spontānajiem abortiem un citām slimībām. Tādēļ subtelomēru reģiona pārmaiņu konstatēšana ir svarīga klīniskās izpētes sastāvdaļa. Subtelomēru pētniecībā galvenokārt tiek pielietotas divas metodes: FISH un SAT. Šajā darbā tika aprakstīta qPCR metode subtelomēru analīzei, kas, teorētiski ir lētāka, ātrāka un precīzāka alternatīva FISH un SAT metodēm. Darbā apraksta qPCR metodes pielietošanu, Y hromosomas p pleca subtelomēru reģiona pārmaiņu pētīšanai, 34 DNS paraugiem, kas iegūti no neauglīgiem vīriešiem. Kā arī, lai pārbaudītu metodes efektivitāti, analizēti 5 DNS paraugi, kas iegūti no „Bērnu klīniskās universitātes slimnīcas” un kuriem jau ir konstatētas subtelomēru delēcijas, pielietojot FISH metodi. No pieciem DNS paraugiem, kuros tika konstatētas delēcijas ar FISH, četros, ar qPCR metodi tās arī tika detektētas. Kas pierāda to, ka metode var pielietot subtelomēru pārmaiņu pētniecībā. Pētot 34 paraugus, kas tika iegūti no neauglīgiem vīriešiem, 7 tika detektētas delēcijas un 1 tika detektēta duplikācija., Human subtelomeres are highly polymorphic and with the highest gene density throughout the genome. Subtelomere sequence changes are associated with mental retardation, haematological malignancies, miscarriages and other diseases. Therefore subtelomere region change detection is an important part of clinical trials. For subtelomere research there are two basic methods: FISH and SAT. In this work is given a description of qPCR method of subtelomere analysis which, in theory, is cheaper, faster and more accurate alternative fo FISH and SAT methods. Here is given a qPCR methods description for Y chromosomes p shoulders subtelomere regions change analysis for 34 DNA samples taken from infertile men. As well as to check the efficiency of the method, five DNA samples, obtained from the „Bērnu klīniskās universitātes slimnīca” and which already have been identified to have subtelomere region deletions using FISH method, were analyzed. From those five DNA sample, which have already been identified by FISH to have deletions, in four samples the deletions were also detected using qPCR method. Which shows that the method can be applied for subtelomere change research. Researching the 34 samples that were obtained from infertile men, 7 were detected to have deletions an 1 was detected to have duplication.
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- 2015
17. MtDNS replikācijas un heteroplazmijas molekulāri ģenētiskā izpēte cilvēka novecošanā
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Ķimsis, Jānis, Pliss, Liana, and Latvijas Universitāte. Bioloģijas fakultāte
- Subjects
Bioloģija - Abstract
Mitohondriji ir iesaistīti dažādos šūnu dzīvības procesos, tai skaitā ATP sintēzē un programmētā šūnu nāvē. DNS polimerāze γ ir vienīgā cilvēka mitohondriālo DNS replicējošā polimerāze. Tās ir saistīta ar mtDNS heteroplazmijas rašanos, novecošanu un mitohondriālajām patoloģijām. Darbā “MtDNS replikācijas un heteroplazmijas molekulāri ģenētiskā izpēte cilvēka novecošanā” pētīti 165 DNS paraugi no veseliem cilvēkiem trīs vecuma grupām. Šiem paraugiem noteiktas mtDNS haplogrupas un sekvenēti polimerāzes γ kodējošā gēna POLG otrais līdz septītais eksoni. Netika atrasta statistiski nozīmīga haplogrupu piederības ietekme uz mtDNS heteroplazmijas attīstīšanos un dzīvildzi. Tikai vienam no 165 paraugiem tika POLG gēnā konstatēta mutācija. Tā ir saistīta ar progresīvās eksternālās oftalmoplēģijas attīstību. Atslēgvārdi: polimerāze γ, mtDNS haplogrupa, mtDNS heteroplazmija, novecošana, Mitochondria are involved in various cell life processes, including ATP synthesis and programmed cell death. DNA polymerase γ is the only human mtDNA replicating polymerase. It is connected to the development mtDNA heteroplasmy, aging and mitochondrial pathologies. 165 DNA samples from healthy individuals in three age groups were studied in the masters thesis “Molecular genetic exploration of the role of mtDNA replication and heteroplasmy in human aging”. We determined the haplogroups of the samples and sequenced the second, third, fourth, fifth, sixth and seventh exons from the gene encoding polymerase γ, POLG. No statistically significant relationship between samples’ haplogroup and heteroplasmy or age was found. Only one of the 165 samples had a mutation in the POLG gene. It is connected to the development of progressive external ophthalmoplegia. Keywords: polymerase γ, mtDNA haplogroups, mtDNA heteroplasmy, aging
- Published
- 2014
18. Point mutations associated with Leber hereditary optic neuropathy in a Latvian population.
- Author
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Aitullina A, Baumane K, Zalite S, Ranka R, Zole E, Pole I, Sepetiene S, Laganovska G, Baumanis V, and Pliss L
- Subjects
- Adult, Female, Haplotypes, Humans, Latvia, Male, Middle Aged, Mitochondria pathology, Optic Atrophy, Hereditary, Leber diagnosis, Optic Atrophy, Hereditary, Leber ethnology, Optic Atrophy, Hereditary, Leber pathology, Pedigree, Polymorphism, Genetic, Sequence Analysis, DNA, White People, DNA, Mitochondrial genetics, Mitochondria genetics, Optic Atrophy, Hereditary, Leber genetics, Point Mutation
- Abstract
Purpose: To study mutations associated with Leber hereditary optic neuropathy (LHON) in patients suspected of having this mitochondrial disorder in a Latvian population. Additional aims were to determine the heteroplasmy status of all non-synonymous polymorphisms identified in the current study and to identify the mitochondrial haplogroups of the studied participants because these factors may contribute to the manifestation of LHON., Methods: Twelve patients, including patients in two families, were enrolled in the current study. LHON was suspected based on the findings of ophthalmologic examinations. In clinically affected individuals, the presence of all previously reported LHON-associated mutations was assessed with sequencing analysis. Additionally, the SURVEYOR endonuclease assay was used to detect heteroplasmy. The mitochondrial haplogroups were identified with restriction analysis and the sequencing of hypervariable segment 1., Results: In one family (mother and son), there was one primary LHON-associated mutation, G11778A. In addition, one rare previously reported LHON-associated polymorphism, A13637G, was detected in two unrelated patients. A non-synonymous polymorphism at T6253C was found in one individual. This mutation was reported in the background of the 3460 mutation among LHON patients in a Chinese population. No non-synonymous point mutations in mitochondrial DNA were found in five of the study participants., Conclusions: Molecular analysis of 12 patients with suspected LHON confirmed the diagnosis in four patients and allowed the use of appropriate prophylactic measures and treatment. Further investigations and additional studies of different populations are necessary to confirm the role of the non-synonymous polymorphisms A13637G and T6253C in the manifestation of LHON and the associations of these polymorphisms with mitochondrial haplogroups and heteroplasmy.
- Published
- 2013
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