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Inhibition of TGFβ signaling decreases osteogenic differentiation of fibrodysplasia ossificans progressiva fibroblasts in a novel in vitro model of the disease
Fibrodysplasia ossificans progressiva is a rare genetic disorder characterized by progressive heterotopic ossification. FOP patients develop soft tissue lumps as a result of inflammation-induced flare-ups which leads to the irreversible replacement of skeletal muscle tissue with bone tissue. Classical FOP patients possess a mutation (c.617G>A; R206H) in the ACVR1-encoding gene which leads to dysregulated BMP signaling. Nonetheless, not all FOP patients with this mutation exhibit equal severity in symptom presentation or disease progression which indicates a strong contribution by environmental factors. (Source: Bone)
Source: Bone - January 5, 2016 Category: Orthopaedics Authors: Dimitra Micha, Elise Voermans, Marelise E.W. Eekhoff, Huib W. van Essen, Behrouz Zandieh-Doulabi, Coen Netelenbos, Thomas Rustemeyer, E.A. Sistermans, Gerard Pals, Nathalie Bravenboer Tags: Original Full Length Article Source Type: research
Development of New Therapeutic Agents for Fibrodysplasia Ossificans Progressiva.
Abstract Fibrodysplasia ossificans progressiva (FOP, MIM #135100) is a rare genetic disorder of heterotopic endochondral ossification, resulting in transformation of soft tissue into episodic bone formation. Currently, no effective treatment for FOP has been established. The causative heterozygous genetic mutations have been identified in either the intracellular glycine-serine-rich (GS) domain or kinase domain of ALK2 (Activin-like kinase-2, also known as Activin A receptor type I, ACVR1), a type I receptor of bone morphogenetic proteins (BMP). Cumulative studies support that these mutations abnormally activate BM...
Source: Current Molecular Medicine - December 22, 2015 Category: Molecular Biology Authors: Luo Y, Alsamarah A, Zhang K, Hao J Tags: Curr Mol Med Source Type: research
Granting Immunity to FOP and Catching Heterotopic Ossification in the Act
Publication date: Available online 17 December 2015 Source:Seminars in Cell & Developmental Biology Author(s): Frederick S. Kaplan, Robert J. Pignolo, Eileen M. Shore The progressive transformation of one organ system into another is a fundamental signature of fibrodysplasia ossificans progressiva (FOP), the most catastrophic form of extraskeletal bone formation in humans. In all affected individuals, FOP is caused by heterozygous missense gain-of-function mutations in Activin receptor A type I (ACVR1), a bone morphogenetic protein (BMP) type I receptor. Loss of autoinhibition of the mutant receptor (mACVR1) r...
Source: Seminars in Cell and Developmental Biology - December 18, 2015 Category: Cytology Source Type: research
Activin-A activates BMP signaling via FOP-ACVR1 [Medical Sciences]
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by extraskeletal bone formation through endochondral ossification. FOP patients harbor point mutations in ACVR1 (also known as ALK2), a type I receptor for bone morphogenetic protein (BMP). Two mechanisms of mutated ACVR1 (FOP-ACVR1) have been proposed: ligand-independent constitutive activity and... (Source: Proceedings of the National Academy of Sciences)
Source: Proceedings of the National Academy of Sciences - December 15, 2015 Category: Science Authors: Hino, K., Ikeya, M., Horigome, K., Matsumoto, Y., Ebise, H., Nishio, M., Sekiguchi, K., Shibata, M., Nagata, S., Matsuda, S., Toguchida, J. Tags: Biological Sciences Source Type: research
Fibrodysplasia ossificans progressiva - radiological findings: a case report.
Authors: Al-Salmi I, Raniga S, Hadidi AA Abstract UNLABELLED: Fibrodysplasia ossificans progressiva formerly known as Myositis ossificans progressiva is a rare hereditary mesodermal disorder. It is characterized by congenital skeletal anomalies and progressive ectopic bone formation in connective tissue, resulting in mature ossification within soft tissues and bridging between osseous structures. It is extremely rare and has an incidence of one in two million people. Usually, it has typical clinical and radiographic features. Here, we present a case of a young patient diagnosed to have an advanced fibrodysplasia os...
Source: Oman Medical Journal - December 12, 2015 Category: Middle East Health Tags: Oman Med J Source Type: research
Signal Transduction: Gain of Activin Turns Muscle into Bone.
Abstract Recent data provide an unexpected twist in our understanding of the pathogenesis of fibrodysplasia ossificans progressiva. Surprisingly, the causative amino acid mutation of the BMP receptor responds to activin, thereby turning soft tissues into bone. PMID: 26654374 [PubMed - as supplied by publisher] (Source: Current Biology)
Source: Current Biology - December 7, 2015 Category: Biology Authors: Sanchez-Duffhues G, Fotsis T, Dijke PT Tags: Curr Biol Source Type: research
Generation of integration free induced pluripotent stem cells from fibrodysplasia ossificans progressiva (FOP) patients from urine samples
Publication date: Available online 1 December 2015 Source:Stem Cell Research Author(s): Laura Hildebrand, Bella Rossbach, Peter Kühnen, Manfred Gossen, Andreas Kurtz, Petra Reinke, Petra Seemann, Harald Stachelscheid Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare, autosomal dominant transmitted genetic disease. Patients experience progressive bone formation replacing tendons, ligaments, muscle and soft tissue. Cause of FOP are gain-of-function mutations in the in the Bone Morphogenetic Protein (BMP) receptor Activin A receptor type 1 (ACVR1) (Kaplan et al., 2008). The most common mutation is R2...
Source: Stem Cell Research - December 2, 2015 Category: Stem Cells Source Type: research
A Door Opens for Fibrodysplasia Ossificans Progressiva.
Abstract Fibrodysplasia ossificans progressiva (FOP), characterized by extra bone formation in soft tissues, is caused by a gain-of-function mutation in ACVR1, a transmembrane receptor. Recently, a potential treatment was developed by identifying a novel molecular mechanism underlying bone formation in FOP. These findings have opened the door to beating FOP. PMID: 26654278 [PubMed - as supplied by publisher] (Source: Trends in Biochemical Sciences)
Source: Trends in Biochemical Sciences - December 1, 2015 Category: Biochemistry Authors: Katagiri T Tags: Trends Biochem Sci Source Type: research
Induced Pluripotent Stem Cells to Model Human Fibrodysplasia Ossificans Progressiva
Publication date: Available online 26 November 2015 Source:Stem Cell Reports Author(s): Jie Cai, Valeria V. Orlova, Xiujuan Cai, Elisabeth M.W. Eekhoff, Keqin Zhang, Duanqing Pei, Guangjin Pan, Christine L. Mummery, Peter ten Dijke Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by progressive ossification of soft tissues, for which there is no effective treatment. Mutations in the bone morphogenetic protein (BMP) type I receptor activin receptor-like kinase 2 (ACVR1/ALK2) are the main cause of FOP. We generated human induced pluripotent stem cells (hiPSCs) from FOP patients with...
Source: Stem Cell Reports - November 27, 2015 Category: Stem Cells Source Type: research
Woman is desperate to conceive before genetic disease leaves her unable to move
Rachel Winnard, 31, from Rochdale, has Fibrodysplasia Ossificans Progressiva (FOP), one of the rarest and most disabling medical conditions, which turns muscle into solid bone. (Source: the Mail online | Health)
Source: the Mail online | Health - October 30, 2015 Category: Consumer Health News Source Type: news
Ashley Kurpiel has Fibrodysplasia Ossificans Progressiva that turns muscle into bone
Ashley Kurpiel, 32, Peachtree City, Georgia, has Fibrodysplasia Ossificans Progressiva (FOP), one of the rarest and most disabling medical conditions, which turns muscle into solid bone. (Source: the Mail online | Health)
Source: the Mail online | Health - October 22, 2015 Category: Consumer Health News Source Type: news
Identifying the Cellular Mechanisms Leading to Heterotopic Ossification
Abstract Heterotopic ossification (HO) is a debilitating condition defined by the de novo development of bone within non-osseous soft tissues, and can be either hereditary or acquired. The hereditary condition, fibrodysplasia ossificans progressiva is rare but life threatening. Acquired HO is more common and results from a severe trauma that produces an environment conducive for the formation of ectopic endochondral bone. Despite continued efforts to identify the cellular and molecular events that lead to HO, the mechanisms of pathogenesis remain elusive. It has been proposed that the formation of ectopic bone re...
Source: Calcified Tissue International - October 20, 2015 Category: Orthopaedics Source Type: research
The Natural History of Flare‐Ups in Fibrodysplasia Ossificans Progressiva (FOP): A Comprehensive Global Assessment
This study is the first comprehensive global assessment of FOP flare‐ups and establishes a critical foundation for the design and evaluation of future clinical trials. This article is protected by copyright. All rights reserved (Source: Journal of Bone and Mineral Research)
Source: Journal of Bone and Mineral Research - October 8, 2015 Category: Orthopaedics Authors: Robert J. Pignolo, Christopher Bedford‐Gay, Moira Liljesthröm, Blythe P. Durbin‐Johnson, Eileen M. Shore, David M. Rocke, Frederick S. Kaplan Tags: Original Article Source Type: research
[Genetic Disorder] Mutation switches ligand specificity
Fibrodysplasia ossificans progressiva (FOP) is a rare but deadly genetic condition that causes bone growth in place of soft tissues. The causal mutation in the bone morphogenetic protein – [Read More] (Source: This Week in Science)
Source: This Week in Science - September 4, 2015 Category: Science Authors: Katrina L. Kelner Tags: Genetic Disorder Source Type: research
[Research Articles] ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by episodically exuberant heterotopic ossification (HO), whereby skeletal muscle is abnormally converted into misplaced, but histologically normal bone. This HO leads to progressive immobility with catastrophic consequences, including death by asphyxiation. FOP results from mutations in the intracellular domain of the type I BMP (bone morphogenetic protein) receptor ACVR1; the most common mutation alters arginine 206 to histidine (ACVR1R206H) and has been thought to drive inappropriate bone formation as a result of receptor hyperactivity. ...
Source: Science Translational Medicine - September 2, 2015 Category: Biomedical Science Authors: Hatsell, S. J., Idone, V., Wolken, D. M. A., Huang, L., Kim, H. J., Wang, L., Wen, X., Nannuru, K. C., Jimenez, J., Xie, L., Das, N., Makhoul, G., Chernomorsky, R., D'Ambrosio, D., Corpina, R. A., Schoenherr, C. J., Feeley, K., Yu, P. B., Yancopoulos, G. Tags: Research Articles Source Type: research
Fibrodysplasia Ossificans Progressiva
No abstract available (Source: JCR: Journal of Clinical Rheumatology)
Source: JCR: Journal of Clinical Rheumatology - August 28, 2015 Category: Rheumatology Tags: Images Source Type: research
Role of osteoclasts in heterotopic ossification enhanced by fibrodysplasia ossificans progressiva-related activin-like kinase 2 mutation in mice
In conclusion, the present study indicates that osteoclast inhibition does not affect heterotopic ossification enhanced by FOP-related mutation. (Source: Journal of Bone and Mineral Metabolism)
Source: Journal of Bone and Mineral Metabolism - July 24, 2015 Category: Orthopaedics Source Type: research
Fibrodysplasia Ossificans Progressiva: A Case Report and Conservative Dental Management
This study aimed to report the case of a 32-year-old female patient with FOP and discuss the dental management of the case. (Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics)
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - July 11, 2015 Category: ENT & OMF Authors: FILIPE NOBRE CHAVES, EALBER CARVALHO MACEDO LUNA, MALENA REGINA DE FREITAS E SILVA, FRANCISCO SAMUEL RODRIGUES CARVALHO, FABRÍCIO BITU SOUSA, FÁBIO WILDSON GURGEL COSTA, KARUZA MARIA ALVES PEREIRA Source Type: research
Identifying the Cellular Mechanisms Leading to Heterotopic Ossification
Abstract Heterotopic ossification (HO) is a debilitating condition defined by the de novo development of bone within non-osseous soft tissues, and can be either hereditary or acquired. The hereditary condition, fibrodysplasia ossificans progressiva is rare but life threatening. Acquired HO is more common and results from a severe trauma that produces an environment conducive for the formation of ectopic endochondral bone. Despite continued efforts to identify the cellular and molecular events that lead to HO, the mechanisms of pathogenesis remain elusive. It has been proposed that the formation of ectopic bone req...
Source: Calcified Tissue International - July 11, 2015 Category: Orthopaedics Source Type: research
Multi‐system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients
Severe variants of fibrodysplasia ossificans progressiva (FOP) affect <2% of all FOP patients worldwide, but provide an unprecedented opportunity to probe the phenotype–genotype relationships that propel the pathology of this disabling disease. We evaluated two unrelated children who had severe reduction deficits of the hands and feet with absence of nails, progressive heterotopic ossification, hypoplasia of the brain stem, motor and cognitive developmental delays, facial dysmorphology, small malformed teeth, and abnormal hair development. One child had sensorineural hearing loss, microcytic anemia, and a tethered spi...
Source: American Journal of Medical Genetics Part A - June 11, 2015 Category: Genetics & Stem Cells Authors: Frederick S. Kaplan, Joyce A. Kobori, Carmen Orellana, Inmaculada Calvo, Monica Rosello, Francisco Martinez, Berta Lopez, Meiqi Xu, Robert J. Pignolo, Eileen M. Shore, Jay C. Groppe Tags: Research Article Source Type: research
Osteochondromas in fibrodysplasia ossificans progressiva: a widespread trait with a streaking but overlooked appearance when arising at femoral bone end
Abstract Metaphyseal bony outgrowths are a well-recognized feature of fibrodysplasia ossificans progressiva (FOP) phenotype, but its genuine frequency, topographic distribution, morphological aspect, and potential implications are not fully established. To better ascertain the frequency and characteristics of osteocartilaginous exostoses in FOP disease, we conducted a cross-sectional radiological study based on all the traceable cases identified in a previous comprehensive national research. Metaphyseal exostoses were present in all the 17 cases of FOP studied. Although most often arising from the distal femor...
Source: Rheumatology International - June 6, 2015 Category: Rheumatology Source Type: research
Muscle imaging in fibrodysplasia ossificans progressiva: the neurologist's perspective
• Fibrodysplasia ossificans progressiva is a rare disease of skeletal muscle.• Experts in the field of neuromuscular disorders should be aware of FOP.• Muscle imaging can be helpful in the identification of this disease. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - May 12, 2015 Category: Neurology Authors: Giorgio Tasca, Adele D'Amico, Margherita Verardo, Alberto Villani, Paolo Siani, Daniele De Brasi, Enrico Bertini, Renata Boldrini Tags: Picture of the Month Source Type: research
Patient-Reported Physical Function Outcome Measure for Adults With Fibrodysplasia Ossificans Progressiva: Intelligent Test Design Based on Promis Item Banks
The objective was to develop a measure of physical function (PF) in adults with FOP. (Source: Value in Health)
Source: Value in Health - May 1, 2015 Category: Global & Universal Authors: M.S. Mattera, F.S. Kaplan, R.J. Pignolo, D. Grogan, D.A. Revicki Source Type: research
Classical and Atypical Fibrodysplasia Ossificans Progressiva in India
We report 14 cases presenting to a referral institution in South India over a 3‐year period. The patients were clinically diagnosed based on foot abnormality or abnormal ectopic ossification and were screened for ACVR1. The genetic analysis of ACVR1 identified the recurrent allelic variant in 12 of 14 patients. One of the remaining patients had a previously reported allele c.1067G>A; p.G356D in the 9th exon and the second allele c.983G>A; p.G328E in the 8th exon of ACVR1. The most common recurrent allele c.617 G>A; p.R206H is also the most common in Indian patients with FOP. (Source: Annals of Human Genetics)
Source: Annals of Human Genetics - May 1, 2015 Category: Genetics & Stem Cells Authors: Vrisha Madhuri, Mona Santhanam, Legasri K Sugumar, Karthikeyan Rajagopal, Sanjay K Chilbule Tags: Regular manuscript Source Type: research
Recent topics in fibrodysplasia ossificans progressiva
Publication date: August 2012 Source:Journal of Oral Biosciences, Volume 54, Issue 3 Author(s): Takenobu Katagiri Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder characterized by progressive heterotopic bone formation in skeletal muscle tissue. Patients with FOP show malformed digits, osteochondroma, and other skeletal abnormalities due to abnormal patterning during development. Heterozygous mutations in the Activin A receptor type I (ACVR1) gene, which encodes the bone morphogenetic protein (BMP) type I receptor ALK2, have been identified in not only typical FOP patients but also patien...
Source: Journal of Oral Biosciences - April 24, 2015 Category: Biomedical Science Source Type: research
Atypical fibrodysplasia ossificans progressiva diagnosed by whole‐exome sequencing
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification of connective tissue that begins during the first decade of life. Our patient presented with intrauterine growth retardation, respiratory distress, neonatal onset soft tissue masses, bilateral hallux valgus, and congenital anomalies of the thyroid and uterus. She was initially diagnosed with atypical infantile myofibromatosis based on clinical and pathological findings. She underwent whole‐exome sequencing (WES) as part of the FORGE study to identify t...
Source: American Journal of Medical Genetics Part A - April 21, 2015 Category: Genetics & Stem Cells Authors: Hao Liu, Sarah L Sawyer, Monika Gos, David Grynspan, Kheirie Issa, Raveena Ramphal, Carmen Rotaru, FORGE Canada Consortium, Jacek Majewski, Kym M Boycott, Gail Graham, Matthew Bromwich Tags: Clinical Report Source Type: research
Fibrodysplasia ossificans progressiva presenting as a painful swelling of the sternocleidomastoid muscle
We report a case of fibrodysplasia ossificans progressiva (FOP) initially presenting as a neck mass. The importance of this lesion is that it should be considered in the clinical differential diagnosis of swellings in the neck. Physicians should be aware of this condition in order to make a timely diagnosis and avoid unnecessary therapies. (Source: Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology)
Source: Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology - March 26, 2015 Category: ENT & OMF Source Type: research
Fibrodysplasia ossificans progressiva in a newborn with cardiac involvement
We report the case of a child with halluces valgi at birth, along with two tender, firm, immovable masses located on the right and left parietal–occipital region, a transitory subluxation of the right hip and an unusual ventricular septal hypertrophy. We hypothesize that the ventricular septal hypertrophy could be the result of a thickening of the fibrous portion of the septum, and a possible new element of the phenotype, probably resulting from the mechanical stimuli secondary to the significant hemodynamic changes occurring at birth. (Source: Pediatrics International)
Source: Pediatrics International - March 25, 2015 Category: Pediatrics Authors: Lucia Marseglia, Gabriella D'Angelo, Sara Manti, Alessandro Manganaro, Maria Pia Calabrò, Carmelo Salpietro, Eloisa Gitto Tags: Patient Report Source Type: research
New Protocol to Optimize iPS Cells for Genome Analysis of Fibrodysplasia Ossificans Progressiva
This article is protected by copyright. All rights reserved. (Source: Stem Cells)
Source: Stem Cells - March 1, 2015 Category: Stem Cells Authors: Yoshihisa Matsumoto, Makoto Ikeya, Kyosuke Hino, Kazuhiko Horigome, Makoto Fukuta, Makoto Watanabe, Sanae Nagata, Takuya Yamamoto, Takanobu Otsuka, Junya Toguchida Tags: Original Research Source Type: research
Bilateral myositis ossificans of the masseter muscle after chemoradiotherapy and critical illness neuropathy-report of a rare entity and review of literature.
Myositis ossificans in the head and neck is a rare heterotropic bone formation within a muscle. Besides fibrodysplasia ossificans progressiva, traumatic and neurogenic forms are described in the literature. We are presenting the case of a 35-year-old female patient with a very rare form of MO of both masseter muscles after 4 weeks of intensive care because of complications (critical illness neuropathy) after chemotherapy. Therefore, special attention should be paid to surgical trauma. As in the present case, radiotherapy, long-time intubation with immobilization and critical myopathy and neuropathy can cause MO with severe...
Source: Head and Neck Oncology - February 13, 2015 Category: Cancer & Oncology Source Type: research
FOP: still turning into stone
Abstract Fibrodysplasia ossificans progressiva (FOP) is a rare catastrophic genetic condition of extraskeletal (heterotopic) ossification. One in every two million people is affected worldwide, with no ethnic, racial, gender, or geographic predisposition. Most cases of FOP arise from a spontaneous missense mutation in the gene encoding bone morphogenic protein (BMP) type II receptor (ACVR1/ALK2). Affected individuals are normal at birth apart from malformed great toes. Onset of clinical symptoms is usually in the first decade of life, presenting with episodic emergence of painful rapidly appearing tumor-like soft...
Source: Clinical Rheumatology - January 26, 2015 Category: Rheumatology Source Type: research
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva
cesc Ventura, Genevieve Beaujat, Elizabeth M W Eekhoff & Gerard Pals (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 21, 2015 Category: Genetics & Stem Cells Authors: Nathalie BravenboerDimitra MichaJames T TriffitAlex N BullockRoberto RavazolloRenata BocciardiMaja di RoccoJ Coen NetelenbosPeter Ten DijkeGonzalo Sánchez-DuffhuesFred S KaplanEileen M ShoreRobert J PignoloPetra SeemannFrancesc VenturaGenevieve BeaujatEl Source Type: research
A small molecule targeting ALK1 prevents Notch cooperativity and inhibits functional angiogenesis
Abstract Activin receptor-like kinase 1 (ALK1, encoded by the gene ACVRL1) is a type I BMP/TGF-β receptor that mediates signalling in endothelial cells via phosphorylation of SMAD1/5/8. During angiogenesis, sprouting endothelial cells specialise into tip cells and stalk cells. ALK1 synergises with Notch in stalk cells to induce expression of the Notch targets HEY1 and HEY2 and thereby represses tip cell formation and angiogenic sprouting. The ALK1-Fc soluble protein fusion has entered clinic trials as a therapeutic strategy to sequester the high-affinity extracellular ligand BMP9. Here, we determined the crystal ...
Source: Angiogenesis - January 4, 2015 Category: Molecular Biology Source Type: research
Molecular, Phenotypic Aspects and Therapeutic Horizons of Rare Genetic Bone Disorders.
Abstract A rare disease afflicts less than 200,000 individuals, according to the National Organization for Rare Diseases (NORD) of the United States. Over 6,000 rare disorders affect approximately 1 in 10 Americans. Rare genetic bone disorders remain the major causes of disability in US patients. These rare bone disorders also represent a therapeutic challenge for clinicians, due to lack of understanding of underlying mechanisms. This systematic review explored current literature on therapeutic directions for the following rare genetic bone disorders: fibrous dysplasia, Gorham-Stout syndrome, fibrodysplasia ossific...
Source: Biomed Res - December 26, 2014 Category: Research Authors: Faruqi T, Dhawan N, Bahl J, Gupta V, Vohra S, Tu K, Abdelmagid SM Tags: Biomed Res Int Source Type: research
Activin Signaling Disruption in the Cochlea Does Not Influence Hearing in Adult Mice
In this study, we present for the first time the presence of activin A and ActRIB in the adult cochlea. Transgenic mice with postnatal dominant-negative ActRIB expression causing disruption of activin signaling in vivo were used for assessing cochlear morphology and hearing ability through the auditory brainstem response (ABR) threshold. Nonfunctioning ActRIB did not affect the ABR thresholds and did not alter the microscopic anatomy of the cochlea. We conclude, therefore, that activin signaling is not necessary for hearing in adult mice under physiological conditions but may be important during and after damaging events i...
Source: Audiology and Neurotology - November 25, 2014 Category: Audiology Source Type: research
Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation
Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare autosomal dominant genetic disorder and the most disabling condition of heterotopic (extraskeletal) ossification in humans. Mutations in the ACVR1 gene (MIM 102576) were identified as a genetic cause of FOP [Shore et al., 2006]. Most patients with FOP have the same recurrent single nucleotide change c.617G>A, p.R206H in the ACVR1 gene. Furthermore, 11 other mutations in the ACVR1 gene have been described as a cause of FOP. Here, we review phenotypic and molecular findings of 130 cases of FOP reported in the literature from 1982 to April 2014 and discuss poss...
Source: Molecular Syndromology - November 7, 2014 Category: Molecular Biology Source Type: research
Is “Fibrodysplasia Ossificans Progressiva” a Vascular Disease? A Groundbreaking Pathogenic Model
Publication date: November–December 2014 Source:Reumatología Clínica (English Edition), Volume 10, Issue 6 Author(s): Antonio Morales-Piga , Francisco Javier Bachiller-Corral , Gonzalo Sánchez-Duffhues Fibrodysplasia ossificans progressiva is the most severe and disabling disorder of ectopic ossification in humans. It is characterized by congenital skeletal abnormalities in association with extraskeletal widespread endochondral osteogenesis. Virtually all patients show the same mutation in the “activin A type-I/activin-like kinase-2” receptor encoding gene. As a result of this discovery there have been significa...
Source: Reumatologia Clinica - November 6, 2014 Category: Rheumatology Source Type: research
The type I BMP receptor ACVR1/ALK2 is required for chondrogenesis during development
This article is protected by copyright. All rights reserved (Source: Journal of Bone and Mineral Research)
Source: Journal of Bone and Mineral Research - November 1, 2014 Category: Orthopaedics Authors: Diana Rigueur, Sean Brugger, Teni Anbarchian, Jong Kil Kim, Yoo Jin Lee, Karen Lyons Tags: Original Article Source Type: research
Clementia begins Phase II extension trial of palovarotene to treat FOP patients
Canada-based Clementia Pharmaceuticals has started a Phase II extension trial of palovarotene, an investigational retinoic acid receptor gamma agonist, to treat patients with fibrodysplasia ossificans progressiva (FOP), a rare and severely disabling … (Source: Drug Development Technology)
Source: Drug Development Technology - October 28, 2014 Category: Pharmaceuticals Source Type: news
Heterotopic Ossification in Fibrodysplasia Ossificans Progressiva
A 7-year-old girl presented with hard, painful lumps over her neck, back, and thighs, which had gradually developed and progressively worsened over the past few years. There was no significant history of trauma. Physical examination revealed smooth, mobile, bony-hard masses, which did not arise from the skeleton. She also had significant neck stiffness, clinodactyly, and hallux valgus (Figure, A). Radiographs revealed prominent ossification of the ligamentum nuchae, fusion of the posterior elements of cervical spine (Figure, B), and a band-like angular area of heterotopic ossification (HO) over the left lower hemithorax an...
Source: The Journal of Pediatrics - October 24, 2014 Category: Pediatrics Authors: Akshay Sharma, Miriam Behar Tags: Insights and Images Source Type: research
Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition –clinical report and review of the literature
We present the first case of prenatal diagnosis of fibrodysplasia ossificans progressiva.Fetal bilateral hallux valgus, seen on second‐trimester ultrasound prompted the clinicians to consider this diagnosis even though family history was negative for FOP. The fetus had the recurrent c.617G>A mutation in ACVR1 gene.This case illustrates that FOP should be considered in the differential diagnosis of fetal hallux valgus to provide appropriate genetic counseling. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - October 1, 2014 Category: Perinatology & Neonatology Authors: Catalina Maftei, Françoise Rypens, Isabelle Thiffault, Johanne Dubé, Anne‐Marie Laberge, Emmanuelle Lemyre Tags: Research Letter Source Type: research
The girl whose joints and muscles are turning to STONE: Horrific rare condition causes sufferers to become imprisoned in a second skeleton - which eventually suffocates them
Ni Min, 14, from China's Sichuan Province, suffers from the condition fibrodysplasia ossificans progressiva (FOP), also dubbed 'stone man' syndrome. (Source: the Mail online | Health)
Source: the Mail online | Health - September 25, 2014 Category: Consumer Health News Source Type: news
Genes, Vol. 5, Pages 792-803: The Revolution in Human Monogenic Disease Mapping
The successful completion of the Human Genome Project (HGP) was an unprecedented scientific advance that has become an invaluable resource in the search for genes that cause monogenic and common (polygenic) diseases. Prior to the HGP, linkage analysis had successfully mapped many disease genes for monogenic disorders; however, the limitations of this approach were particularly evident for identifying causative genes in rare genetic disorders affecting lifespan and/or reproductive fitness, such as skeletal dysplasias. In this review, we illustrate the challenges of mapping disease genes in such conditions through the ultra-...
Source: Genes - September 5, 2014 Category: Genetics & Stem Cells Authors: Emma DuncanMatthew BrownEileen Shore Tags: Review Source Type: research
Relationship of 3,5-Diaryl-2-aminopyridine
ALK2 Inhibitors Reveals Unaltered Binding Affinity for Fibrodysplasia
Ossificans Progressiva Causing Mutants
Journal of Medicinal ChemistryDOI: 10.1021/jm501177w (Source: Journal of Medicinal Chemistry)
Source: Journal of Medicinal Chemistry - September 4, 2014 Category: Chemistry Authors: Agustin H. Mohedas, You Wang, Caroline E. Sanvitale, Peter Canning, Sungwoon Choi, Xuechao Xing, Alex N. Bullock, Gregory D. Cuny and Paul B. Yu Source Type: research
Fibrodysplasia ossificans progressiva: a case report.
In this report, the importance of the decision to perform surgery has been stressed. PMID: 26022598 [PubMed - in process] (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - September 1, 2014 Category: Pediatrics Authors: Önal M, Bajin MD, Yılmaz T Tags: Turk J Pediatr Source Type: research
ACVR1 in FOP and DIPG
Whole-genome sequencing studies have recently identified a quarter of cases of the rare childhood brainstem tumor diffuse intrinsic pontine glioma to harbor somatic mutations in ACVR1. This gene encodes the type I bone morphogenic protein receptor ALK2, with the residues affected identical to those that, when mutated in the germline, give rise to the congenital malformation syndrome fibrodysplasia ossificans progressiva (FOP), resulting in the transformation of soft tissue into bone. This unexpected link points toward the importance of developmental biology processes in tumorigenesis and provides an extensive experience in...
Source: Cancer Research - September 1, 2014 Category: Cancer & Oncology Authors: Taylor, K. R., Vinci, M., Bullock, A. N., Jones, C. Tags: Review Source Type: research
Clementia begins Phase II trial of palovarotene to treat fibrodysplasia ossificans progressiva
Canada-based Clementia Pharmaceuticals has started a double-blind, placebo-controlled Phase II clinical trial of palovarotene to treat fibrodysplasia ossificans progressiva (FOP), a rare, severely disabling genetic disease. (Source: Drug Development Technology)
Source: Drug Development Technology - July 14, 2014 Category: Pharmaceuticals Source Type: news
ALK2 Signaling Enhances Osteoclast Formation [Molecular Bases of Disease]
In conclusion, this study demonstrated that the causal mutation transfection of fibrodysplasia ossificans progressiva in myoblasts enhanced the formation of osteoclasts from its precursor through TGF-β in muscle tissues. (Source: Journal of Biological Chemistry)
Source: Journal of Biological Chemistry - June 12, 2014 Category: Chemistry Authors: Yano, M., Kawao, N., Okumoto, K., Tamura, Y., Okada, K., Kaji, H. Tags: Cell Biology Source Type: research
Evaluation of the Cellular Origins of Heterotopic Ossification.
Abstract EDUCATIONAL OBJECTIVES As a result of reading this article, physicians should be able to: 1. Update the current knowledge about candidate cell populations as heterotopic ossification (HO) contributors. 2. Understand the potential limitations of the experimental designs and techniques underlying the identification of putative HO contributors. 3. Clarify the confusion about the phenotypes of candidate populations in the literature. 4. Contrast the fundamental cellular differences between HO and normal skeletogenesis to identify potential disease-specific targets. Heterotopic ossification (HO), acquired or he...
Source: Orthopedics - May 1, 2014 Category: Orthopaedics Authors: Kan L, Kessler JA Tags: Orthopedics Source Type: research