2. Academic Validation
  3. ACVR1 Function in Health and Disease

ACVR1 Function in Health and Disease

  • Cells. 2019 Oct 31;8(11):1366. doi: 10.3390/cells8111366.
José Antonio Valer 1,  Cristina Sánchez-de-Diego 2,  Carolina Pimenta-Lopes 3,  Jose Luis Rosa 4,  Francesc Ventura 5
Affiliations

Affiliations

  • 1 Departament de Ciències Fisiològiques, Universitat de Barcelona, IDIBELL, L'Hospitalet de Llobregat, 08907 Barcelona, Spain. j.a.valer@hotmail.com.
  • 2 Departament de Ciències Fisiològiques, Universitat de Barcelona, IDIBELL, L'Hospitalet de Llobregat, 08907 Barcelona, Spain. csanchezdg@gmail.com.
  • 3 Departament de Ciències Fisiològiques, Universitat de Barcelona, IDIBELL, L'Hospitalet de Llobregat, 08907 Barcelona, Spain. carolinapimentacosta@ub.edu.
  • 4 Departament de Ciències Fisiològiques, Universitat de Barcelona, IDIBELL, L'Hospitalet de Llobregat, 08907 Barcelona, Spain. joseluisrosa@ub.edu.
  • 5 Departament de Ciències Fisiològiques, Universitat de Barcelona, IDIBELL, L'Hospitalet de Llobregat, 08907 Barcelona, Spain. fventura@ub.edu.
PMID: 31683698 DOI: 10.3390/cells8111366
Abstract

Activin A receptor type I (ACVR1) encodes for a bone morphogenetic protein type I receptor of the TGFβ receptor superfamily. It is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system development and regulation. Moreover, ACVR1 has been extensively studied for its causal role in fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterised by progressive heterotopic ossification. ACVR1 is linked to different pathologies, including cardiac malformations and alterations in the reproductive system. More recently, ACVR1 has been experimentally validated as a Cancer driver gene in diffuse intrinsic pontine glioma (DIPG), a malignant childhood brainstem glioma, and its function is being studied in other Cancer types. Here, we review ACVR1 receptor function and signalling in physiological and pathological processes and its regulation according to cell type and mutational status. Learning from different functions and alterations linked to ACVR1 is a key step in the development of interdisciplinary research towards the identification of novel treatments for these pathologies.

Keywords

ACVR1; ALK2; BMP; DIPG (diffuse intrinsic pontine glioma), FOP (fibrodysplasia ossificans progressiva), AMH; activin; bone; cancer; heterotopic ossification.

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