Association between preeclampsia and prostasin polymorphism in Pakistani females

Ejaz, Saima; Ali, Anwar; Azim, Kamran; Mahmood, Atif; Khan, Asif Iqbal; Almazyad, Tuline A.; Bilal, Β. A.

doi:10.15537/smj.2020.11.25497

Cited by 3 publications

(2 citation statements)

References 24 publications

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“…They reported that the C genotype of (rs12597511) was significant in PE patients. Therefore, the C allele polymorph might be a potential risk to PE pathogenesis [ 118 ].…”

Section: Genetic Polymorphism and Its Association With Pre-eclampsiamentioning

confidence: 99%

Pre-Existing Diabetes Mellitus, Hypertension and KidneyDisease as Risk Factors of Pre-Eclampsia: A Disease of Theories and Its Association with Genetic Polymorphism

Alanazi

Victor

Rehman

et al. 2022

IJERPH

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Pre-existing diabetes, hypertension and kidney disorders are prominent risk factors of pre-eclampsia (PE). It is a multifactorial pregnancy disorder associated with high blood pressure, proteinuria, and multiorgan failure, which develops after the 20th week of pregnancy. It is one of the most feared pregnancy disorders, as it consumes thousands of fetomaternal lives per annum. According to clinical and pathological studies, the placenta appears to be a key player in the pathogenesis of PE; however, the exact origin of this disorder is still under debate. Defective placentation and angiogenesis are the hallmarks of PE progression. This angiogenic imbalance, together with maternal susceptibility, might determine the severity and clinical presentation of PE. This article comprehensively examines the mechanisms of pathogenesis of PE and current evidence of the factors involved in its progression. Finally, this article will explore the genetic association of PE, various candidate genes, their proposed mechanisms and variants involved in its pathogenesis.

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“…They reported that the C genotype of (rs12597511) was significant in PE patients. Therefore, the C allele polymorph might be a potential risk to PE pathogenesis [ 118 ].…”

Section: Genetic Polymorphism and Its Association With Pre-eclampsiamentioning

confidence: 99%

Pre-Existing Diabetes Mellitus, Hypertension and KidneyDisease as Risk Factors of Pre-Eclampsia: A Disease of Theories and Its Association with Genetic Polymorphism

Alanazi

Victor

Rehman

et al. 2022

IJERPH

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“…A pré-eclâmpsia (PE) é um distúrbio peculiar do período gestacional, sendo geralmente caracterizada por hipertensão (> 140/90 mmHg) e proteinúria (> 300 mg/24 horas) desenvolvido após 20 semanas de gestação, a PE e a eclâmpsia são uma das quatro categorias associadas aos distúrbios hipertensivos da gravidez (TANG et al, 2021). Uma vez que, esses distúrbios, incluindo hipertensão crônica, com ou sem PE/eclâmpsia sobreposta, hipertensão gestacional, síndrome HELLP, PE com ou sem características graves ou eclâmpsia apresentam um risco significativo de morbidade tanto para a mãe quanto para o feto, a cada ano a PE causa mais de 500.000 mortes fetais e 70.000 maternas em todo o mundo (EJAZ et al, 2020). Embora cuidados pré-natais adequados com observação atenta para detectar sinais de PE e parto imediato para reduzir ou evitar efeitos adversos tenham produzido redução da morbidade e mortalidade, eles ainda existem (LUGER; KIGHT, 2021).…”

Section: Introductionunclassified

A Relação Entre Polimorfismo Genético E Os Mecanismos Que Controlam a Patogênese Da Pré-Eclâmpsia

Gomes

Silva

Rocha

et al. 2022

BJCR

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INTRODUÇÃO: A pré-eclâmpsia (PE) é uma desordem complexa que se caracteriza por hipertensão e proteinúria após a 20ª semana de gestação, e causa a maior morbidade neonatal e mortalidade perinatal. Até agora, a patogênese exata da PE ainda não é totalmente compreendida, e intensos esforços de pesquisa estão focados na PE para elucidar os mecanismos fisiopatológicos. Estudos apontam que, fatores genéticos estão relacionados à fisiopatologia dessa síndrome. OBJETIVOS: Este estudo objetiva apresentar através de uma revisão de literatura, a relação entre o polimorfismo genético e patogênese da PE, bem como a atuação de alguns genes envolvidos no desenvolvimento da PE. MÉTODOS: Para tanto, realizou-se uma busca nas bases de dados Medline/Pubmed, Lilacs, Biblioteca virtual em saúde (BVS) e Scielo, mediante os descritores: Pré-eclâmpsia; Polimorfismo; e Fatores genéticos, bem como seus correspondentes em inglês. Foram selecionados 14 artigos para compor essa revisão, quem compõe o acervo dos últimos 11 anos. RESULTADOS: De fato, na PE existe uma infinidade de causas mal definidas, incluindo componentes genéticos, que implicam em fatores etiológicos, como má adaptação imune, isquemia placentária e aumento do estresse oxidativo. Ademais, muitos estudos confirmaram a presença de genes desregulados em pacientes grávidas com PE. Entretanto, a função e o mecanismo desses genes estão sendo revelados gradualmente. Dessa forma, uma maior compreensão dos fatores etiológicos da PE é fundamental para melhorar o tratamento e a prevenção.

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Impaired erythroid maturation in murine embryos upon loss of the preeclampsia-associated serine protease prostasin

Di Carlo,

Salas-Bastos,

Castelblanco

et al. 2024

Preprint

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In humans, the membrane-bound serine protease prostasin encoded by Prss8 is associated with preeclampsia, a gestational hypertension disorder affecting blood supply of the placenta. Mice deficient in Prss8 resulted in the death of embryos at embryonic day (E) 14.5 and it was characterized by impaired placental labyrinth maturation and vascularization. A pale phenotype was observed in these embryos, suggesting ineffective erythropoiesis. Thus, in this study we analyzed this phenotype further in Prss8-/- embryos at E11.5 and E12.5. We found a reduced number of fetal erythroblasts in placenta, yolk sac and fetal liver of Prss8-/- embryos, while the reticulocyte number was increased, suggesting a defective terminal erythroid differentiation. Further, single-cell RNA sequencing (scRNA-seq) analyses of aorta-gonad-mesonephros (AGM) revealed an upregulation of several ribosomal genes associated with Diamond-Blackfan anemia in erythroid cells of Prss8-/- (KO) embryos. These cells showed a lower capacity to maturate into erythrocytes in vivo and in vitro, despite hematopoietic cells (HSCs) being produced normally. We suggested prostasin influenced erythropoiesis in a cell-extrinsic manner, since Prss8 expression was not detected in erythroid cells but highly expressed in ectoderm-like cells within the AGM. Congruently, while yolk sac-derived cells displayed no erythrocyte maturation defect in vitro, the vascular remodeling of yolk sac in KO embryos was impaired as evidenced by reduced secondary branching likely as a consequence of the reduced blood flow. Our findings unveiled a novel role for this serine protease in terminal maturation of erythrocytes in the fetal liver and open new research avenues for understanding the physiological mechanism of prostasin and its pathological implications.

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Association between preeclampsia and prostasin polymorphism in Pakistani females

Cited by 3 publications

References 24 publications

Pre-Existing Diabetes Mellitus, Hypertension and KidneyDisease as Risk Factors of Pre-Eclampsia: A Disease of Theories and Its Association with Genetic Polymorphism

Pre-Existing Diabetes Mellitus, Hypertension and KidneyDisease as Risk Factors of Pre-Eclampsia: A Disease of Theories and Its Association with Genetic Polymorphism

A Relação Entre Polimorfismo Genético E Os Mecanismos Que Controlam a Patogênese Da Pré-Eclâmpsia

Impaired erythroid maturation in murine embryos upon loss of the preeclampsia-associated serine protease prostasin

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