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Ace mutation pregnancy

Matteo Cassina, Giulia A Cagnoli, Daniela Zuccarello, Elena Di Gianantonio, Maurizio Clementi
Exposure to teratogenic drugs during pregnancy is associated with a wide range of embryo-fetal anomalies and sometimes results in recurrent and recognizable patterns of malformations; however, the comprehension of the mechanisms underlying the pathogenesis of drug-induced birth defects is difficult, since teratogenesis is a multifactorial process which is always the result of a complex interaction between several environmental factors and the genetic background of both the mother and the fetus. Animal models have been extensively used to assess the teratogenic potential of pharmacological agents and to study their teratogenic mechanisms; however, a still open issue concerns how the information gained through animal models can be translated to humans...
September 14, 2016: European Journal of Medical Genetics
Nada Aracic, Damir Roje, Ivana Alujevic Jakus, Marinela Bakotin, Vedran Stefanovic
PURPOSE: To assess the distribution of births and spontaneous abortions, first-trimester abortion (FTA) and mid-trimester abortion (MTA), in untreated (n=128) and low molecular weight heparin (LMWH) treated pregnancies (n=50) of the same women with inherited thrombophilias and adverse pregnancy outcome (APO) in previous pregnancies. We particularly investigated the impact of LMWH on reducing the pregnancy complications in two thrombophilia types, "Conventional" and "Novel". MATERIALS AND METHODS: 50 women with inherited thrombophilia (26 Conventional and 24 Novel) and APO in previous pregnancies were included in the study...
September 2016: Yonsei Medical Journal
Fatemeh Shakarami, Mohammad Taghi Akbari, Shohreh Zare Karizi
BACKGROUND: Recurrent pregnancy loss (RPL) defined by two or more failed pregnancies before 20 weeks of gestation. Several factors play a role in RPL including thrombophilic conditions which can be influenced by gene polymorphisms. Plasminogen activator inhibitor-1 (PAI-1) and angiotensin converting enzyme (ACE) genes are closely related to fibrinolytic process, embryonic development and pregnancy success. OBJECTIVE: The aim of this study was to investigate the relationship between RPL and common polymorphisms in ACE and PAI-1 genes...
October 2015: Iranian Journal of Reproductive Medicine
Salina Y Saddick
Mild gestational hyperglycemia (MGH) is a very common complication of pregnancy that is characterized by intolerance to glucose. The association of angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism to MGH has been previously reported. In this study, we evaluated the association between ACE polymorphism and the risk of MGH in a Saudi population. We conducted a case-control study in a population of 100 MGH patients and 100 control subjects. ACE gene polymorphism was analyzed by the novel approach of tetraprimer amplification refractory mutation system (ARMS)-polymerase chain reaction (PCR)...
May 2015: Saudi Journal of Biological Sciences
K Bork, K Wulff, G Witzke, J Hardt
BACKGROUND: Hereditary angioedema with normal C1-INH may be linked to specific mutations in the coagulation factor 12 (FXII) gene (HAE-FXII) or mutations in genes that are still unknown (HAE-unknown). To assess the differences in transmission and inheritance, clinical features, and laboratory parameters between patients with HAE-FXII and HAE-unknown. METHODS: Sixty-nine patients with HAE-FXII from 23 unrelated families and 196 patients with HAE-unknown from 65 unrelated families were studied...
August 2015: Allergy
Kjell Haram, Jan Helge Mortensen, Bálint Nagy
Both preeclampsia and the HELLP syndrome have their origin in the placenta. The aim of this study is to review genetic factors involved in development of preeclampsia and the HELLP syndrome using literature search in PubMed. A familial cohort links chromosomes 2q, 5q, and 13q to preeclampsia. The chromosome 12q is coupled with the HELLP syndrome. The STOX1 gene, the ERAP1 and 2 genes, the syncytin envelope gene, and the -670 Fas receptor polymorphisms are involved in the development of preeclampsia. The ACVR2A gene on chromosome 2q22 is also implicated...
2014: Journal of Pregnancy
Zheng Wang, Xiao-Jie Zhang, Ting Li, Jia Li, Yu Tang, Weidong Le
AIMS: Previously, we have documented that prenatal hypoxia can aggravate the cognitive impairment and Alzheimer's disease (AD) neuropathology in APP(Swe) /PS1(A246E) (APP/PS1) transgenic mice, and valproic acid (VPA) can prevent hypoxia-induced down-regulation of β-amyloid (Aβ) degradation enzyme neprilysin (NEP) in primary neurons. In this study, we have investigated the molecular mechanisms of VPA's anti-AD effects and found that VPA can reduce the prenatal hypoxia-induced neuritic plaque formation and improve the learning deficits in the AD mouse model...
March 2014: CNS Neuroscience & Therapeutics
Ahmad Poursadegh Zonouzi, Nader Chaparzadeh, Saeid Ghorbian, Mahzad Mehrzad Sadaghiani, Laya Farzadi, Alieh Ghasemzadeh, Taiebeh Kafshdooz, Masoud Sakhinia, Ebrahim Sakhinia
PURPOSE: To determine whether the Factor V (1691G/A), Factor V HR2 (4070A/G), Prothrombin (20210G/A), PAI-1 (-675 I/D, 5G/4G), ACE (intron 16 I/D), Factor VII (Gln353Arg), Factor XIII (Val34Leu), β-fibrinogen (-455G/A), Glycoprotein Ia (807C/T), tPA (intron 8 D/I) gene mutations could be risk factors for recurrent pregnancy loss (RPL). METHODS: Genotyping of thrombophilic gene mutations were carried out by amplification Refractory Mutation System-PCR (ARMS-PCR) method after DNA extraction...
October 2013: Journal of Assisted Reproduction and Genetics
Marie-Claire Gubler
Renal tubular dysgenesis (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early onset and persistent anuria (leading to oligohydramnios and the Potter sequence) and ossification defects of the skull. In most cases, early death occurs from pulmonary hypoplasia, anuria and refractory arterial hypotension. RTD may be acquired during foetal development or inherited as an autosomal recessive disease. Inherited RTD is genetically heterogeneous and linked to mutations in the genes encoding the major components of the renin-angiotensin system (RAS): angiotensinogen, renin, angiotensin-converting enzyme or angiotensin II receptor type 1...
January 2014: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Chen Yang, Wu Fangfang, Li Jie, Yang Yanlong, Wang Jie, Liang Xuefei, Zhang Xuerong, Hu Yanling
BACKGROUND: Recurrent pregnancy loss (RPL) had said to be related to the angiotensin converting enzyme insertion/deletion polymorphisms (ACE I/D) gene polymorphisms. But the conclusions were controversial. This meta-analysis was conducted to investigate the real association in ACE I/D polymorphisms and RPL firstly. METHODS: Combine Pubmed Embase and HuGENet database in data analysis for this meta-analysis from October 2000 to November 2011. The metagen system was used to select the models and effects...
November 2012: Journal of Assisted Reproduction and Genetics
Zohreh Rahimi, Ziba Rahimi, Hadi Mozafari, Abbas Parsian
BACKGROUND: The aim of the present study was to investigate the association between angiotensin converting enzyme (ACE) insertion/deletion (I/D) and angiotensin II type-1 receptor (AT1R) A1166C polymorphisms with the risk of preeclampsia and lipid peroxidation in preeclamptic women from Western Iran. METHODS: One hundred and ninety-eight preeclamptic women (128 women with mild and 70 with severe forms) and 100 age- and parity-matched controls were enrolled in this case-control study...
June 2013: Journal of the Renin-angiotensin-aldosterone System: JRAAS
Mariusz Kaczmarczyk, Beata Łoniewska, Anna Kuprjanowicz, Anita Józwa, Agnieszka Bińczak-Kuleta, Iwona Gorący, Grażyna Dawid, Agnieszka Kordek, Katarzyna Karpińska-Kaczmarczyk, Andrzej Brodkiewicz, Andrzej Ciechanowicz
The number of nephrons is a multifactorial trait controlled by the interaction of environmental factors and genetic variants that influence the extent of branching nephrogenesis during foetal life. A correlation between renal mass and nephron number in newborns allows the use of the total kidney volume at birth as a surrogate for congenital nephron number. Since the renin-angiotensin system plays an important role in renal development we hypothesized that the common, functional insertion/deletion (I/D) polymorphism in the ACE gene might be responsible for the variation in kidney size amongst healthy individuals...
December 2013: Journal of the Renin-angiotensin-aldosterone System: JRAAS
W G Zhong, Y Wang, H Zhu, X Zhao
Preeclampsia affects 3-8% of pregnancies and is a major cause of maternal and perinatal morbidity and mortality worldwide. Inappropriate activation of the renin-angiotensin system may play a role in the development of preeclampsia. An insertion/deletion polymorphism in the angiotensin-converting enzyme gene (ACE-I/D) has been associated with differences in ACE activity. However, there are controversies in reports on the association of ACE-I/D with preeclampsia. Data were analyzed using Review Manager Version 5...
2012: Genetics and Molecular Research: GMR
Anirban Bhattacharyya, Sukhdeep Singh Basra, Priyanka Sen, Biswajit Kar
Peripartum cardiomyopathy is idiopathic heart failure occurring in the absence of any determinable heart disease during the last month of pregnancy or the first 5 months postpartum. The incidence varies worldwide but is high in developing nations; the cause of the disease might be a combination of environmental and genetic factors. Diagnostic echocardiographic criteria include left ventricular ejection fraction <0.45 or M-mode fractional shortening <30% (or both) and end-diastolic dimension >2.7 cm/m(2)...
2012: Texas Heart Institute Journal
Ulrike John, Kerstin Benz, Axel Hübler, Ludwig Patzer, Martin Zenker, Kerstin Amann
We report a male newborn presenting with sonographically normal kidneys, oligohydramnios during late pregnancy, and persisting anuric renal failure. Despite intensive treatment, the patient suffered from severe hypotension and died at the age of 4 weeks. At autopsy, kidneys were found to be normal; on histology, deranged renal structures, in particular proximal tubuli and vessels, were noted, leading to the diagnosis of renal tubular dysgenesis (RTD). The diagnosis was confirmed by 2 heterozygous nonsense mutations of the ACE gene...
May 2012: Urology
Zhen Chen, Fang Xu, Yonggang Wei, Fei Liu, Hongbo Qi
BACKGROUND: The angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism has been reported inconsistently as being associated with risk of pregnancy hypertensive disorders (PHDs). We examined these associations by performing a meta-analysis. METHODS: Two investigators independently consulted the Medline, Embase, CNKI, and Chinese Biomedicine databases. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated in fixed- and random-effects models when appropriate...
March 2012: Journal of the Renin-angiotensin-aldosterone System: JRAAS
Oztürk Ozdemir, Gonca Imir Yenicesu, Fatma Silan, Binnur Köksal, Sinem Atik, Filiz Ozen, Mert Göl, Ali Cetin
BACKGROUND AND AIM: Recurrent pregnancy loss (RPL) is a heterogeneous disorder that has been associated with antiphospholipid syndrome and other prothrombotic parameters. We aimed to investigate the prevalence of 12 thrombophilic gene mutations in RPL couples in the current results. METHOD: In a total of 543 Turkish women with RPL and 327 of their male partners (870 individuals with RPL), and a control group of 106 fertile couples (control) were analyzed for factor V leiden (FVL), factor V H1299R, factor II prothrombin G20210A, FXIII V34L, β-fibrinogen -455G>A, plasminogen activator inhibitor-1 (PAI-1), GPIIIa L33P (HPA-1 a/b L33P), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q, and Apo E genes...
April 2012: Genetic Testing and Molecular Biomarkers
Bodo B Beck, Howard Trachtman, Michael Gitman, Ilene Miller, John A Sayer, Andrea Pannes, Anne Baasner, Friedhelm Hildebrandt, Matthias T F Wolf
Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis, which is characterized by death in utero due to kidney failure and pulmonary hypoplasia. The phenotype resembles the fetopathy caused by angiotensin-converting enzyme inhibitor or angiotensin receptor blocker intake during pregnancy. Recently, heterozygous REN mutations were shown to result in early-onset hyperuricemia, anemia, and chronic kidney disease (CKD). To date, only 3 different heterozygous REN mutations have been published...
November 2011: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
Rita Machado de Oliveira, Zrinka Marijanovic, Filipe Carvalho, Gabriel Miltenberger Miltényi, Joana Estevão Matos, Sandra Tenreiro, Sónia Oliveira, Francisco Javier Enguita, Rosário Stone, Tiago Fleming Outeiro
Protein conformational disorders are associated with the appearance, persistence, accumulation, and misprocessing of aberrant proteins in the cell. The etiology of renal tubular dysgenesis (RTD) is linked to mutations in the angiotensin-converting enzyme (ACE). Here, we report the identification of a novel ACE mutation (Q1069R) in an RTD patient. ACE Q1069R is found sequestered in the endoplasmic reticulum and is also subject to increased proteasomal degradation, preventing its transport to the cell surface and extracellular fluids...
2011: PloS One
Shagun Aggarwal, Nalini Dimri, Indu Tandon, Sarita Agarwal
AIM: To find association of angiotensin-converting enzyme (ACE) insertion/deletion (I/D), angiotensinogen (AGT) T704C, methylenetetrahydrofolate reductase (MTHFR) C677T and factor V Leiden (FVL) G1691A polymorphisms with pre-eclampsia (PE) in North Indian women. MATERIAL & METHODS: In this prospective case-control study, genotyping of 200 pre-eclamptic women and 200 normotensive pregnant controls was performed for the ACE I/D, AGT T/C,MTHFR C/T and FVL G/A polymorphisms...
October 2011: Journal of Obstetrics and Gynaecology Research
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