Cellular consequences of uncharacterized surfactant protein-A2 (SFTPA2)-gene mutations associated with familial IPF and lung cancer

Guenther, K.; Seeger, Werner; Guenther, Andreas; Korfei, Martina

doi:10.1183/13993003.congress-2019.oa1608

Cited by 3 publications

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“…ATP-binding cassette subfamily A member 3 (ABCA3) is essential for the intracellular synthesis of alveolar surface-active substances ( Mulugeta et al, 2015 ). Among four surfactant, genetic mutations of SFTPA ( Wang Y. et al, 2009 ; Guenther et al, 2019 ), SFTPC ( Venosa et al, 2017 ) and ABCA3( Zhou et al, 2017 ; Manali et al, 2019 ) have been identified in IPF patients. Although SFTPA is not directly involved in the formation of alveolar surface-active tension, it plays an important role in intrinsic lung immunity.…”

Section: Underlying Factors Associated With the Pathogenesis Of Ipfmentioning

confidence: 99%

Research Progress in the Molecular Mechanisms, Therapeutic Targets, and Drug Development of Idiopathic Pulmonary Fibrosis

et al. 2022

Front. Pharmacol.

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Idiopathic pulmonary fibrosis (IPF) is a fatal interstitial lung disease. Recent studies have identified the key role of crosstalk between dysregulated epithelial cells, mesenchymal, immune, and endothelial cells in IPF. In addition, genetic mutations and environmental factors (e.g., smoking) have also been associated with the development of IPF. With the recent development of sequencing technology, epigenetics, as an intermediate link between gene expression and environmental impacts, has also been reported to be implicated in pulmonary fibrosis. Although the etiology of IPF is unknown, many novel therapeutic targets and agents have emerged from clinical trials for IPF treatment in the past years, and the successful launch of pirfenidone and nintedanib has demonstrated the promising future of anti-IPF therapy. Therefore, we aimed to gain an in-depth understanding of the underlying molecular mechanisms and pathogenic factors of IPF, which would be helpful for the diagnosis of IPF, the development of anti-fibrotic drugs, and improving the prognosis of patients with IPF. In this study, we summarized the pathogenic mechanism, therapeutic targets and clinical trials from the perspective of multiple cell types, gene mutations, epigenetic and environmental factors.

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Section: Underlying Factors Associated With the Pathogenesis Of Ipfmentioning

confidence: 99%

Research Progress in the Molecular Mechanisms, Therapeutic Targets, and Drug Development of Idiopathic Pulmonary Fibrosis

et al. 2022

Front. Pharmacol.

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“…El miembro 3 de la subfamilia A de casetes de unión a ATP (ABCA3) es esencial para la síntesis intracelular de sustancias tensoactivas alveolares [132]. Entre los cuatro surfactantes, se han identificado mutaciones genéticas en SFTPA [133, 134], SFTPC [135] y ABCA3 [136, 137] en pacientes con FPI. Aunque SFTPA no está involucrado directamente en la formación de una capa tensoactiva alveolar, tiene un papel importante en la inmunidad pulmonar intrínseca.…”

Section: Factores Subyacentes Asociados Con La Patogénesis De La Fpiunclassified

Avances en la investigación de los mecanismos moleculares, los blancos terapéuticos y el desarrollo de fármacos para la fibrosis pulmonar idiopática

et al. 2022

Kompass Neumol

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La fibrosis pulmonar idiopática (FPI) es una enfermedad pulmonar intersticial de carácter mortal. Estudios recientes han identificado el papel clave de la interacción entre las células epiteliales, mesenquimales, inmunitarias y endoteliales desreguladas en la FPI. Además, algunas mutaciones genéticas y ciertos factores ambientales (por ejemplo, el tabaquismo) se han asociado con el desarrollo de la FPI. Con el reciente desarrollo de la tecnología de secuenciación, también se ha señalado que la epigenética, como vínculo intermedio entre la expresión genética y los impactos ambientales, está implicada en la fibrosis pulmonar. Aunque se desconoce la etiología de la FPI, en los últimos años han surgido blancos y agentes terapéuticos novedosos para el tratamiento de la FPI, y el éxito del lanzamiento de la pirfenidona y el nintedanib ha demostrado que la terapia contra la FPI tiene un futuro prometedor. Por lo tanto, nuestro objetivo es conocer en profundidad los mecanismos moleculares subyacentes y los factores patogénicos de la FPI, lo que sería útil para el diagnóstico de la FPI, el desarrollo de fármacos antifibróticos y un mejor pronóstico para los pacientes con FPI. En este estudio resumimos el mecanismo patogénico, los blancos terapéuticos y los ensayos clínicos considerando múltiples tipos de células y mutaciones genéticas, así como factores epigenéticos y ambientales.

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“…ATP-binding cassette subfamily A member 3 (ABCA3) is essential for the intracellular synthesis of alveolar surface-active substances (Mulugeta et al, 2015). Among four surfactant, genetic mutations of SFTPA (Wang Y. et al, 2009;Guenther et al, 2019), SFTPC (Venosa et al, 2017) and ABCA3 (Zhou et al, 2017;Manali et al, 2019) have been identified in IPF patients. Although SFTPA is not directly involved in the formation of alveolar surface-active tension, it plays an important role in intrinsic lung immunity.…”

Section: Genetic Mutations In Alveolar Surfactant/mucinmentioning

confidence: 99%

Pulmonary Fibrosis: One Manifestation, Various Diseases

2022

Frontiers Research Topics

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Cellular consequences of uncharacterized surfactant protein-A2 (SFTPA2)-gene mutations associated with familial IPF and lung cancer

Cited by 3 publications

References 0 publications

Research Progress in the Molecular Mechanisms, Therapeutic Targets, and Drug Development of Idiopathic Pulmonary Fibrosis

Research Progress in the Molecular Mechanisms, Therapeutic Targets, and Drug Development of Idiopathic Pulmonary Fibrosis

Avances en la investigación de los mecanismos moleculares, los blancos terapéuticos y el desarrollo de fármacos para la fibrosis pulmonar idiopática

Pulmonary Fibrosis: One Manifestation, Various Diseases

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