Abstract
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.
Highlights
Biomedicines 2021, 9, 154. https://Research in rare diseases is of paramount importance to build knowledge for the design of potential therapeutic approaches
All of them derive from research on Fibrodysplasia Ossificans Progressiva (FOP) pathophysiology and, because the cause of the disease is a mutation in the ACVR1 gene, encoding the
We present a speculative analysis of two aspects of the FOP pathogenesis related to the ACVR1 mutation itself: (a) why a single mutation has such a high prevalence in FOP patients; and (b) how the expression of ACVR1 can be modulated by cis-acting variants in the surrounding genomic region of the gene in human chromosome 2q, affecting FOP expressivity
Summary
Research in rare diseases is of paramount importance to build knowledge for the design of potential therapeutic approaches. For Fibrodysplasia Ossificans Progressiva (FOP), the state of the art of research is highly consistent with such relationships between research findings and their application to clinics in term of therapeutic strategies. (accessed on 4 February 2021)) indicates a list of 16 therapeutic proposals, among them some already developed as ongoing or planned clinical trials (https://clinicaltrials.gov (accessed on 4 February 2021)). All of them derive from research on FOP pathophysiology and, because the cause of the disease is a mutation in the ACVR1 gene, encoding the. A very recent article published in the Special Issue “Fibrodysplasia Ossificans Progressiva: Studies on Disease Mechanism towards Novel
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