scholarly journals SOST Gene

2020 ◽  
Author(s):  
Keyword(s):  

2019 ◽  
Vol 2019 ◽  
pp. 1-8
Author(s):  
Jingyu Li ◽  
Junjie Xue ◽  
Yan Jing ◽  
Manyi Wang ◽  
Rui Shu ◽  
...  

As the initial part in the development of osteoarthritis (OA), subchondral bone sclerosis has been considered to be initiated by excess mechanical loading and proven to be correlated to other pathological changes. Sclerostin, which is an essential mechanical stress response protein, is encoded by the SOST gene. It is expressed in osteocytes and mature chondrocytes and has been proven to be closely correlated to OA. However, the relationship and mechanism between the SOST gene and the development of OA remain unclear. The aim of the present study was to investigate the role of the SOST gene in OA pathogenesis in the subchondral bone. A knee anterior cruciate ligament transection (ACLT) mouse osteoarthritis (OA) model on SOST-knockout (SOST KO) and wild-type (WT) mice was established. The pathogenic and phenotypic changes in the subchondral bone were investigated by histology, micro-CT, immunohistochemistry, TRAP staining, Masson staining, and Toluidine blue staining. It was found that sclerostin expression decreased in both the calcified cartilage and mineralized subchondral structures during the development of OA. Joint instability induced a severe cartilage degradation phenotype, with higher OARSI scores in SOST KO mice, when compared to WT mice. SOST KO mice with OA exhibited a higher BMD and BV/TV ratio, as well as a higher rate of bone remodeling and TRAP-positive cell number, when compared to the WT counterparts, but the difference was not significant between the sham-operation groups. It was concluded that loss of sclerostin aggravates knee OA in mice by promoting subchondral bone sclerosis and increasing catabolic activity of cartilage.



Bone ◽  
2002 ◽  
Vol 31 (4) ◽  
pp. 515-519 ◽  
Author(s):  
W Balemans ◽  
D Foernzler ◽  
C Parsons ◽  
M Ebeling ◽  
A Thompson ◽  
...  


2011 ◽  
Vol 22 ◽  
pp. S101
Author(s):  
Zehra Sema Ozkan ◽  
Derya Deveci ◽  
Huseyin Yuce


Bone ◽  
2013 ◽  
Vol 52 (2) ◽  
pp. 707-710 ◽  
Author(s):  
Sanjay Kumar Bhadada ◽  
Ashu Rastogi ◽  
Ellen Steenackers ◽  
Eveline Boudin ◽  
Ashutosh Arya ◽  
...  
Keyword(s):  




2008 ◽  
Vol 12 (4) ◽  
pp. 475-479 ◽  
Author(s):  
Chong Ae Kim ◽  
Rachel Honjo ◽  
Débora Bertola ◽  
Lílian Albano ◽  
Luiz Oliveira ◽  
...  
Keyword(s):  


2015 ◽  
Vol 413 ◽  
pp. 157-167 ◽  
Author(s):  
Asiri R. Wijenayaka ◽  
Dongqing Yang ◽  
Matthew Prideaux ◽  
Nobuaki Ito ◽  
Masakazu Kogawa ◽  
...  


Renal Failure ◽  
2015 ◽  
Vol 37 (9) ◽  
pp. 1514-1517 ◽  
Author(s):  
Lu-Fei Wang ◽  
Hao Wu ◽  
Yang Xu ◽  
Meng Deng ◽  
Xiang-Long Han ◽  
...  


Bone ◽  
2010 ◽  
Vol 47 ◽  
pp. S183
Author(s):  
J.M. Patsch ◽  
C. Muschitz ◽  
T. Wögerbauer ◽  
A. Berzlanovich ◽  
K. Wahl ◽  
...  


2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A177-A177
Author(s):  
Ebtihal Y Alyusuf ◽  
Aishah A Ekhzaimy ◽  
Ali Alzahrani

Abstract Background: Sclerostin is a SOST gene product that inhibits osteoblasts activity and prevents excessive bone formation by antagonizing Wnt signaling pathway. Sclerosteosis has been linked to the loss of function mutation in SOST gene. It is a rare autosomal recessive disorder characterized by craniotubular hyperostosis leading to gigantism, cranial nerves entrapment, and fatal cerebellar herniation. Objectives To report a novel mutation of SOST gene in a patient with sclerosteosis. Clinical Case: A 25-year-old female was referred to the endocrine clinic for suspected GH excess. The patient noted the onset of headache, progressive bilateral blurred vision and hearing disturbance, irregular menses, and generalized arthralgia; at the age of 23 years. Subsequently, she observed a progressive increase in the size of shoes and hands, proptosis, and protrusion of the chin. She was the second of seven siblings from non-consanguineous parents with normal antenatal and neonatal history except for syndactyly. All family members were phenotypically normal except for a sister with similar physical appearance who had cranial decompression 20 years back. MRI pituitary was done initially due the suspicion of pituitary adenoma and it revealed an enlarged sella turcica with normal pituitary gland. Surprisingly, the MRI showed diffuse osseous thickening with narrowing of skull base foramina, narrowing of optic and internal auditory canals, secondary compression of cerebral parenchyma and bilateral cerebellar tonsillar herniation. Further image revealed extremely increased bone mass density with Z-score values of +12, generalized increase cortical thickness, vertebral end plates sclerosis, and deformed left index finger. Biochemical and endocrine tests revealed normal GH, IGF -1, TSH, prolactin, short Synacthen test, FSH, LH, estradiol, calcium, phosphorus, PTH and alkaline phosphatase. Due to progressive worsening of vision with compressive optic neuropathy, optic nerve fenestration with decompression hemicraniotomy was performed. Sclerosteosis was suspected due to the predominant craniotubular hyperostosis with syndactyly. There was no definite therapy. Management aimed at relieving symptoms and preventing complications, so she was commenced on calcitriol and prednisolone to suppress the osteoclasts. Genomic sequencing of the SOST was performed. We identified a novel deletion mutation in SOST gene (c.387delG, p.D131fs*) which disrupts the sclerostin function causing sclerosteosis in this patient. Conclusion: We describe a novel mutation in the SOST gene in a patient with sclerosteosis in Saudi Arabia, that has not been previously described. Closing the gap between the genomic knowledge and clinical applications will add the benefit of success in development of targeted therapies in such a fatal disease.



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