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成纤维细胞性骨化性纤维发育不良药物治疗的最新进展。

Recent progress in drug development for fibrodysplasia ossificans progressiva.

机构信息

College of Arts and Sciences, Cornell University, Ithaca, NY, 14850, USA.

College of Arts and Sciences, University of Pennsylvania, Philadelphia, PA, 191041, USA.

出版信息

Mol Cell Biochem. 2022 Oct;477(10):2327-2334. doi: 10.1007/s11010-022-04446-9. Epub 2022 May 10.

Abstract

Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disease caused by heterozygous missense mutations in Activin A receptor type I which is also known as Activin-like kinase 2 (ALK2), a type I receptor of Bone Morphogenetic Proteins(BMP). Patients with FOP usually undergo episodic flare-ups and the heterotopic ossification in soft and connective tissues. Molecular mechanism study indicates that Activin A, the ligand which normally transduces Transforming Growth Factor Beta signaling, abnormally activates BMP signaling through ALK2 mutants in FOP, leading to heterotopic bone formation. To date, effective therapies to FOP are unavailable. However, significant advances have recently been made in the development of FOP drugs. In this article, we review the recent advances in understanding the FOP mechanism and drug development, with a focus on the small-molecular and antibody drugs currently in the clinical trials for FOP treatment.

摘要

进行性骨化性纤维发育不良(FOP)是一种罕见的遗传性疾病,由激活素 A 受体 I 型(也称为激活素样激酶 2(ALK2))的杂合错义突变引起,该受体是骨形态发生蛋白(BMP)的 I 型受体。FOP 患者通常会经历间歇性发作和软组织及结缔组织的异位骨化。分子机制研究表明,激活素 A 是一种配体,通常可传递转化生长因子 β 信号,而 FOP 中的 ALK2 突变体会异常激活 BMP 信号,导致异位骨形成。迄今为止,尚无针对 FOP 的有效治疗方法。然而,最近在 FOP 药物的开发方面取得了重大进展。本文综述了 FOP 发病机制和药物开发方面的最新进展,重点介绍了目前正在进行 FOP 治疗临床试验的小分子和抗体药物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d73f/9499916/a1dcf58c47ea/11010_2022_4446_Fig1_HTML.jpg

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