The influence of MTHFR polymorphisms on physiological regulations
Methylentetrahydrofolát reduktáza je důležitým enzymem jednouhlíkového cyklu folátu. Katalyzuje redukci 5,10-methylentetrahydrofolátu na 5-methyltetrahydtofolát, který je klíčový pro remetylaci homocysteinu na methionin. Polymorfizmy v genu kódujícím tento enzym mohou způsobovat jeho sníženou aktivi...
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| Typ dokumentu: | VŠ práce nebo rukopis |
| Jazyk: | Angličtina |
| Vydáno: |
2012
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| Témata: | |
| On-line přístup: | http://is.muni.cz/th/356527/prif_b/ |
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| 072 | 7 | |a 577 |x Biochemie. Molekulární biologie. Biofyzika |2 Konspekt |9 2 | |
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| 100 | 1 | |a Bencúrová, Petra |% UČO 356527 |* [absolvent PřírF MU] |4 dis | |
| 242 | 1 | 0 | |a Vliv polymorfizmů genu pro MTHFR na fyziologické regulace |y cze |
| 245 | 1 | 4 | |a The influence of MTHFR polymorphisms on physiological regulations |h [rukopis] / |c Petra Bencúrová |
| 260 | |c 2012 | ||
| 300 | |a 44 l. : |b il. | ||
| 500 | |a Vedoucí práce: Omar Šerý | ||
| 502 | |a Bakalářská práce (Bc.)--Masarykova univerzita, Přírodovědecká fakulta, 2012 | ||
| 520 | 2 | |a Methylentetrahydrofolát reduktáza je důležitým enzymem jednouhlíkového cyklu folátu. Katalyzuje redukci 5,10-methylentetrahydrofolátu na 5-methyltetrahydtofolát, který je klíčový pro remetylaci homocysteinu na methionin. Polymorfizmy v genu kódujícím tento enzym mohou způsobovat jeho sníženou aktivitu, zvýšenou hladinu homocysteinu v plazmě a nedostatek methioninu. Nejznámější polymorfizmus C677T byl již spojen s patofyziologií různých onemocnění. Tato studie byla zaměřena na určení vztahu mezi tímto polymorfizmem a schizofrenií. Asociační analýza jejich vztahu byla provedena na 369 mužích (209 kontrol + 187 pacientů) z České republiky. Byla pozorovánaasociace mezi schizofrenií a alelou T(p=0,023), která zvyšuje riziko schizofrenie 1,26x (RR=1,26, 95% CI 1.0354-1.5436). |% cze | |
| 520 | 2 | 9 | |a Methylenetetrahydrofolate reductase is an essential enzyme of one-carbon cycle of folate. It catalyses the reduction of 5,10-methylenetetrahydrofolate to 5- methyltetrahydrofolate that is crucial for the remethylation of homocysteine to methionine. Polymorphisms in gene encoding this enzyme may result in its lower activity, elevated plasma homocysteine and methionine deficiency. The most commonC677T polymorphism was already associated with the pathophysiology of multiple diseases. This study aimed on determining the association between the polymorphism and schizophrenia. Association analysis was performed on 396 male subjects (209 controls + 187 patients) from Czech Republic. Significant association between schizophrenia and T allele was observed (p= 0.023), increasing the relative risk of schizophrenia 1.26x(RR=1.26, 95% CI 1.0354-1.5436). |9 eng |
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| 650 | 0 | 7 | |a homocystein |7 ph180720 |2 czenas |
| 650 | 0 | 7 | |a hyperhomocysteinémie |7 ph180719 |2 czenas |
| 650 | 0 | 7 | |a MTHFR |2 CZ-BrMU |
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| 650 | 0 | 9 | |a homocysteine |2 eczenas |
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| 650 | 0 | 9 | |a polymorphism |2 eczenas |
| 650 | 0 | 9 | |a schizophrenia |2 eczenas |
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| 710 | 2 | |a Masarykova univerzita. |b Ústav biochemie |7 ko2015866760 |4 dgg | |
| 856 | 4 | 1 | |u http://is.muni.cz/th/356527/prif_b/ |
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