Homocisteina şi polimorfismele genei mthfr la femeile cu avort spontan recurrent
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MOŞIN, Veaceslav; HOTINEANU, Alina; VISTERNICEAN, Elena; CREŢU, Adrian. Homocisteina şi polimorfismele genei mthfr la femeile cu avort spontan recurrent. In: Arta Medica . 2017, nr. 1(62), pp. 24-27. ISSN 1810-1852.
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Arta Medica
Numărul 1(62) / 2017 / ISSN 1810-1852

Homocisteina şi polimorfismele genei mthfr la femeile cu avort spontan recurrent

CZU: 616.39:577.21
Pag. 24-27

Moşin Veaceslav12, Hotineanu Alina2, Visternicean Elena1, Creţu Adrian2
 
1 Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“,
2 Centrul Medical „Repromed”
 
Disponibil în IBN: 15 septembrie 2017


Rezumat

Homocisteina este un aminoacid care conține sulf și este un produs intermediar derivat din metabolismul metioninei. Metilentetrahidrofolat reductaza (MTHFR) este o enzimă cheie implicată in metabolismul folatului şi catalizează conversia 5,10-metilentetrahidrofolat in 5 – metilterahidrofolat, transferand grupul metil pentru remetilarea homocisteinei in metionină. Homocisteina şi polimorfismul MTHFR C677T sunt implicate in dezvoltarea şi apariţia patologiilor obstetricale, legate de insuficienţa placentară, precum: preeclampsia, pierderea recurentă a sarcinii, naşterea prematură, restricţia de creştere intrauterină a fătului şi decolarea de placentă normal inserată. Scopul acestui studiu a fost de a evalua concentraţia serică totală de homocisteină şi polimorfismele genei MTHFR la femeile cu avort spontan recurent. Cercetarea reprezintă un studiu descriptiv transversal şi inclus 50 de femei care au prezentat cel puţin 2 avorturi spontane consecutive in antecedente. Homocisteina serică totală a fost determinată prin metoda chemiluminiscenţă şi polimorfismele genetice MTHFR C677T şi MTHFR A1298C au fost evaluate. Pentru detectarea genotipurilor MTHFR C677T şi MTHFR A1298C s-au realizat reacţiile PCR/RFLP (reacţie de polimerizare in lanţ şi polimorfismul lungimii fragmentelor de restricţie). La 25 paciente (50,0%, II95: 36,15 – 63,85) s-au determinat valori semnificativ crescute ale homocisteinei serice totale. Genotiparea polimorfismelor MTHFR C677T şi MTHFR A1298C relevă faptul că 24 paciente (48,0% II95: 34,16 – 61,84) sunt heterozigote 677CT şi 7 paciente (14,0% II95: 4,39 – 23,61) sunt homozigote 677TT, 25 paciente (50,0% II95: 36,15 – 63,85) sunt heterozigote 1298AC şi 5 paciente (10,0% II95: 1,69 – 18,31) sunt homozigote 1298CC. Incidența hiperhomocisteinemiei a fost cea mai mare la pacientele cu genotipul 677TT MTHFR (23,64±2,56 μmol/l) in comparaţie cu pacientele cu polimorfismul 677CC (11,81±1,43 μmol/l) (p <0.001).

Homocysteine is a sulfur-containing intermediate product in the normal metabolism of methionine. Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme in the metabolism of folic acid and converts 5,10-methylenetetrahydrofolate into 5-methyltetrahydrofolate, providing a methyl group for conversion of homocysteine into methionine. Homocysteine and polymorphism MTHFR C677T are associated with an increased risk of a placental vasculopathy, which in turn is related to preeclampsia, recurrent early pregnancy loss, premature delivery, low birth weight, and placental abruption or infarction. The purpose of the study was to evaluate maternal homocysteine concentration and MTHFR polymorphisms in women with recurrent miscarriages. This study has a cross-sectional design and included 50 women who had experienced the loss of at least two consecutive pregnancies. The level of the total serum homocysteine was measured via the chemiluminescent method and C677T and A1298C polymorphisms of the MTHFR gene was evaluated. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was applied to detect the MTHFR C677T and MTHFR A1298C genotypes. We found that 25 patients (50,0%, 95%CI 36,15 – 63,85) had significantly high total serum homocysteine values. The genotype and allele frequencies of the C677T and A1298C polymorphisms of MTHFR gene were analyzed: 24 patients were heterozygous for 677CT (48,0%, 95%CI 34,16 – 61,84) and 7 patients were homozygous for 677TT (14,0%, 95%CI 4,39 – 23,61), 25 patients were heterozygous for 1298 AC (50,0%, 95%CI 36,15 – 63,85) and 5 patients 11 were homozygous for 1298CC (10,0%, 95%CI 1,69 – 18,31). Women homozygous for the 677T allele had significantly increased fasting total serum homocysteine (23,64±2,56 μmol/l), compared with women homozygous for the wild-type allele 677С (11,81±1,43 μmol/l) (p <0.001).

BibTeX Export

@article{ibn_53974,
author = {Moşin, V.N. and Hotineanu, A. and Visternicean, E. and Creţu, A.A.},
title = {Homocisteina şi polimorfismele genei mthfr la femeile cu avort spontan recurrent},
journal = {Arta Medica },
year = {2017},
volume = {62 (1)},
pages = {24-27},
month = {Mar},
abstract = {(RO) Homocisteina este un aminoacid care conține sulf și este un produs intermediar derivat din metabolismul metioninei. Metilentetrahidrofolat reductaza (MTHFR) este o enzimă cheie implicată in metabolismul folatului şi catalizează conversia 5,10-metilentetrahidrofolat in 5 – metilterahidrofolat, transferand grupul metil pentru remetilarea homocisteinei in metionină. Homocisteina şi polimorfismul MTHFR C677T sunt implicate in dezvoltarea şi apariţia patologiilor obstetricale, legate de insuficienţa placentară, precum: preeclampsia, pierderea recurentă a sarcinii, naşterea prematură, restricţia de creştere intrauterină a fătului şi decolarea de placentă normal inserată. Scopul acestui studiu a fost de a evalua concentraţia serică totală de homocisteină şi polimorfismele genei MTHFR la femeile cu avort spontan recurent. Cercetarea reprezintă un studiu descriptiv transversal şi inclus 50 de femei care au prezentat cel puţin 2 avorturi spontane consecutive in antecedente. Homocisteina serică totală a fost determinată prin metoda chemiluminiscenţă şi polimorfismele genetice MTHFR C677T şi MTHFR A1298C au fost evaluate. Pentru detectarea genotipurilor MTHFR C677T şi MTHFR A1298C s-au realizat reacţiile PCR/RFLP (reacţie de polimerizare in lanţ şi polimorfismul lungimii fragmentelor de restricţie). La 25 paciente (50,0%, II95: 36,15 – 63,85) s-au determinat valori semnificativ crescute ale homocisteinei serice totale. Genotiparea polimorfismelor MTHFR C677T şi MTHFR A1298C relevă faptul că 24 paciente (48,0% II95: 34,16 – 61,84) sunt heterozigote 677CT şi 7 paciente (14,0% II95: 4,39 – 23,61) sunt homozigote 677TT, 25 paciente (50,0% II95: 36,15 – 63,85) sunt heterozigote 1298AC şi 5 paciente (10,0% II95: 1,69 – 18,31) sunt homozigote 1298CC. Incidența hiperhomocisteinemiei a fost cea mai mare la pacientele cu genotipul 677TT MTHFR (23,64±2,56 μmol/l) in comparaţie cu pacientele cu polimorfismul 677CC (11,81±1,43 μmol/l) (p <0.001).},
abstract = {(EN) Homocysteine is a sulfur-containing intermediate product in the normal metabolism of methionine. Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme in the metabolism of folic acid and converts 5,10-methylenetetrahydrofolate into 5-methyltetrahydrofolate, providing a methyl group for conversion of homocysteine into methionine. Homocysteine and polymorphism MTHFR C677T are associated with an increased risk of a placental vasculopathy, which in turn is related to preeclampsia, recurrent early pregnancy loss, premature delivery, low birth weight, and placental abruption or infarction. The purpose of the study was to evaluate maternal homocysteine concentration and MTHFR polymorphisms in women with recurrent miscarriages. This study has a cross-sectional design and included 50 women who had experienced the loss of at least two consecutive pregnancies. The level of the total serum homocysteine was measured via the chemiluminescent method and C677T and A1298C polymorphisms of the MTHFR gene was evaluated. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was applied to detect the MTHFR C677T and MTHFR A1298C genotypes. We found that 25 patients (50,0%, 95%CI 36,15 – 63,85) had significantly high total serum homocysteine values. The genotype and allele frequencies of the C677T and A1298C polymorphisms of MTHFR gene were analyzed: 24 patients were heterozygous for 677CT (48,0%, 95%CI 34,16 – 61,84) and 7 patients were homozygous for 677TT (14,0%, 95%CI 4,39 – 23,61), 25 patients were heterozygous for 1298 AC (50,0%, 95%CI 36,15 – 63,85) and 5 patients 11 were homozygous for 1298CC (10,0%, 95%CI 1,69 – 18,31). Women homozygous for the 677T allele had significantly increased fasting total serum homocysteine (23,64±2,56 μmol/l), compared with women homozygous for the wild-type allele 677С (11,81±1,43 μmol/l) (p <0.001).},
url = {https://ibn.idsi.md/vizualizare_articol/53974},
}