Genetic background of pulmonary (vascular) diseases - how much is written in the codes?

IF 4.6 Q2 MATERIALS SCIENCE, BIOMATERIALS

ACS Applied Bio Materials Pub Date : 2024-09-01 Epub Date: 2024-06-24 DOI:10.1097/MCP.0000000000001090

Christina A Eichstaedt, Simon O Haas, Memoona Shaukat, Ekkehard Grünig

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引用次数: 0

Abstract

Purpose of review: To provide a comprehensive overview of the underlying genetic defects of pulmonary (vascular) diseases and novel treatment avenues.

Recent findings: Pulmonary arterial hypertension (PAH) is the prime example of a pulmonary vascular disease, which can be caused by genetic mutations in some patients. Germline mutations in the BMPR2 gene and further genes lead to vessel remodelling, increase of pulmonary vascular resistance and onset of heritable PAH. The PAH genes with the highest evidence and strategies for genetic testing and counselling have been assessed and evaluated in 2023 by international expert consortia. Moreover, first treatment options have just arisen targeting the molecular basis of PAH.

Summary: Apart from PAH, this review touches on the underlying genetic causes of further lung diseases including alpha 1 antitrypsin deficiency, cystic fibrosis, familial pulmonary fibrosis and lymphangioleiomyomatosis. We point out the main disease genes, the underlying pathomechanisms and novel therapies trying not only to relieve symptoms but to treat the molecular causes of the diseases.

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肺（血管）疾病的遗传背景--代码中写了多少？

综述的目的：全面概述肺（血管）疾病的潜在基因缺陷和新的治疗途径：肺动脉高压（PAH）是肺血管疾病的主要病例，部分患者可因基因突变而患病。BMPR2 基因和其他基因的种系突变会导致血管重塑、肺血管阻力增加以及遗传性 PAH 的发病。2023 年，国际专家联盟对证据确凿的 PAH 基因以及基因检测和咨询策略进行了评估和评价。此外，针对 PAH 分子基础的首批治疗方案刚刚出现。摘要：除 PAH 外，本综述还涉及其他肺部疾病的潜在遗传原因，包括α1 抗胰蛋白酶缺乏症、囊性纤维化、家族性肺纤维化和淋巴管瘤病。我们指出了主要的疾病基因、潜在的病理机制和新型疗法，试图不仅缓解症状，而且治疗疾病的分子病因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

ACS Applied Bio Materials Chemistry-Chemistry (all)

CiteScore

9.40

自引率

2.10%

发文量

464