Molecular mechanisms for activation of mutant activin receptor-like kinase 2 in fibrodysplasia ossificans progressiva

Conclusion BMP type II receptor-dependent phosphorylation of ALK2 mutants in response to ligand binding is important for the activation of BMP signaling in FOP. Therefore, the use of anti-activin A compounds would be a novel treatment approach for FOP.
Source: Journal of Oral Biosciences - Category: Biomedical Science Source Type: research

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Rachel Winnard, 35, of Rochdale, Greater Manchester, suffers from the genetic disorder Fibrodysplasia Ossificans Progressiva, which causes bony bars to form within the body's muscles.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Abstract Heterotopic ossification (HO) is the aberrant formation of mature, lamellar bone in nonosseous tissue. Fibrodysplasia ossificans progressiva (FOP) is a rare and devastating genetic disorder that causes progressive HO in the ligaments, tendons, and muscles throughout the body. FOP is attributed to an autosomal mutation in activin receptor-like kinase 2 (ALK2), a bone morphogenetic protein(BMP) type I  receptor. Initial studies show that mutant ALK2 drives HO by constitutively activating the BMP signaling pathway. Recently, mutant ALK2 has been shown to transduce Smad1/5 signaling and enhance chondroge...
Source: Bioscience Reports - Category: Biomedical Science Authors: Tags: Biosci Rep Source Type: research
We present a case of a 66-year-old woman who had initially presented at age 54 without the hallux valgus deformity or classic-type flare-ups. As there is currently no cure for FOP, management is mainly symptom control. Physicians should still consider FOP if imaging indicates progressive heterotopic ossification in the absence of hallux valgus in an older patient.
Source: Case Reports in Womens Health - Category: OBGYN Source Type: research
Carli Henrotay, of Saint Louis, Missouri, has the genetic condition fibrodysplasia ossificans progressiva. With a life expectancy of 40, it gets progressively worse with age and has no cure.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
The original version of this article [1] unfortunately included an error to an author ’s name. Author Maja Di Rocco was erroneously presented as Maja DiRocco.
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Correction Source Type: research
Publication date: Available online 20 May 2019Source: Joint Bone SpineAuthor(s): Amandine Chabernaud Negrier, Thomas Funck-Brentano, Robert Burns, Lokmane Taihi, Valérie Bousson
Source: Joint Bone Spine - Category: Orthopaedics Source Type: research
Fibrodysplasia Ossificans Progressiva (FOP; OMIM#135100) is an ultra-rare, severely disabling genetic disease characterized by congenital malformation of the great toes and progressive heterotopic ossification...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
This study demonstrated the importance of metabolite identification for the discovery of novel and safe drug candidates for the treatment of FOP and helped medicinal chemists steer away from potential metabolic liabilities. Introduction Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disorder involving progressive and widespread postnatal ossification of soft tissues (Buyse et al., 1995). The heterotopic ossification occurs independently from normal bone and progresses in a well-defined spatial pattern. It forms ribbons, sheets and plates of bone that may fuse the joints of the individual. The ecto...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
It's Friday. Boggle your brain with FFFF challenge and some old fashioned trivia. Funtabulously Frivolous Friday Five 278 - Game of Thrones Style The post Funtabulously Frivolous Friday Five 278 – GoT Version appeared first on Life in the Fast Lane • LITFL • Medical Blog.
Source: Life in the Fast Lane - Category: Emergency Medicine Authors: Tags: FFFF aortic dissection bipolar crapper Fibrodysplasia ossificans progressiva Game of thrones GoT Grey scale John Harrington John Snow Johra Jon Snow King George II King George III Kit Harrington porphyria Targaryen Toilet Source Type: blogs
AbstractIncreasing knowledge in the field of rare diseases has led to new therapeutic approaches in the last decade. Treatment strategies have been developed after elucidation of the underlying genetic alterations and pathophysiology of certain diseases (e.g., in osteogenesis imperfecta, achondroplasia, hypophosphatemic rickets, hypophosphatasia and fibrodysplasia ossificans progressiva). Most of the drugs developed are specifically designed agents interacting with the disease-specific cascade of enzymes and proteins involved. While some are approved (asfotase alfa, burosumab), others are currently being investigated in ph...
Source: Pediatric Drugs - Category: Pediatrics Source Type: research
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