Faculty of Pharmacy, Lj. (FFALJ)
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Spremenjena aktivnost encima 5,10-metilentetrahidrofolat reduktaze (MTHFR) kot dejavnik tveganja za številne bolezni = Decreased enzymatic activity of 5,10-methylenetetrahydrofolate reductase (MTHFR) as a risk factor for the development of several diseasesVidmar, Maša, farmacevtka ...Pomen folatov v fiziologiji je že dolgo znan, prav tako številne patologije, povezane z znižanim folatnim statusom. Pomanjkanje folatov pri posamezniku je lahko posledica nizkega vnosa folata, ... genetske zasnove posameznika ali sočasnega zdravljenja z zdravili, ki vplivajo na folatni status. Namen tega prispevka je osvetliti pomen ugotavljanja genetskih polimorfizmov, ki pomembno vplivajo na raven biološko aktivne oblike folata. V procesu pretvorbe 5,10-metilen-THF v 5-metil-THF je ključen encim MTHFR, ki je polimorfen, zato pa ima lahko zmanjšano encimsko aktivnost. V slovenski populaciji ima polno aktivnost encima MTHFR le 9,3 % posameznikov, ki so homozigoti za divji tip alelov, medtem ko je povprečna aktivnost encima pri nosilcih mutiranih alelov med 50-60 %. Prisotnost polimorfizma MTHFR predstavlja tveganje za pojav hiperhomocisteinemije in kardiovaskularnih bolezni, nevroloških bolezni, pojav raznih oblik raka, pri nosečnicah pa tudi večje tveganje za pojav okvar ploda. Za ohranjanje ustreznega folatnega statusa so v nekaterih državah uvedli dodajanje folne kisline v prehrano, vendar se je potrebno zavedati, da ta pristop ne bo odpravil pomanjkljivosti v delovanju encima MTHFR, lahko pa ublaži njihov vpliv na končni fenotip posameznika. Prisotnost polimorfizmov v ključnih genih folatnega cikla je pogosta. Zato je ugotavljanje genetske zasnove posameznika smiselno predvsem pri najbolj ranljivih skupinah prebivalstva, npr. pri nosečnicah in bolnikih, zdravljenih z zdravili, kot so 5-fluorouracil, metotreksat, 6-merkaptopurin, ki se na različne načine vpletajo v presnovno pot folatov. Genotipizacija bi prispevala k identifikaciji bolnikov, pri katerih je povečano tveganje za neustrezen folatni status in zato pomagala pri preprečenju z njim povezanih patoloških stanj.Source: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva = Slovenian medical journal = journal of Slovenian Medical Association. - ISSN 1318-0347 (Letn. 85, št. 5/6, maj-jun. 2016, str. 324-336)Type of material - article, component part ; adult, seriousPublish date - 2016Language - slovenianCOBISS.SI-ID - 4133489
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source: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva = Slovenian medical journal = journal of Slovenian Medical Association. - ISSN 1318-0347 (Letn. 85, št. 5/6, maj-jun. 2016, str. 324-336)
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Database name | Field | Year |
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Vidmar, Maša, farmacevtka | 38277 |
Grželj, Jasna | ![]() |
Geršak, Ksenija | 00814 |
Mlinarič-Raščan, Irena | 12443 |
Source: Personal bibliographies
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