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Genomic Context and Mechanisms of the ACVR1 Mutation in Fibrodysplasia Ossificans Progressiva

期刊

BIOMEDICINES
卷 9, 期 2, 页码 -

出版社

MDPI
DOI: 10.3390/biomedicines9020154

关键词

Fibrodysplasia Ossificans Progressiva; ACVR1; human genome; cis-regulatory elements; genetic modifiers; gene expression

资金

  1. FOP Italia Association
  2. Italian Ministry of Health

向作者/读者索取更多资源

This article summarizes the basic research on the genetic mutation responsible for FOP, including advancements in related fields and potential therapeutic approaches. It also explores the reasons why the single mutation R206H in the ACVR1 gene is highly prevalent in FOP patients, as well as factors that may modulate FOP expression.
Basic research in Fibrodysplasia Ossificans Progressiva (FOP) was carried out in the various fields involved in the disease pathophysiology and was important for designing therapeutic approaches, some of which were already developed as ongoing or planned clinical trials. Genetic research was fundamental in identifying the FOP causative mutation, and the astonishing progress in technologies for genomic analysis, coupled to related computational methods, now make possible further research in this field. We present here a review of molecular and cellular factors which could explain why a single mutation, the R206H in the ACVR1 gene, is absolutely prevalent in FOP patients. We also address the mechanisms by which FOP expressivity could be modulated by cis-acting variants in the ACVR1 genomic region in human chromosome 2q. Finally, we also discuss the general issue of genetic modifiers in FOP.

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