scholarly journals SOST Gene

2020 ◽  
Author(s):  
Keyword(s):  
Sost Gene

scholarly journals SOST Deficiency Aggravates Osteoarthritis in Mice by Promoting Sclerosis of Subchondral Bone

2019 ◽  
Vol 2019 ◽  
pp. 1-8
Author(s):  
Jingyu Li ◽  
Junjie Xue ◽  
Yan Jing ◽  
Manyi Wang ◽  
Rui Shu ◽  
...  
Keyword(s):  
Subchondral Bone ◽  
Cruciate Ligament ◽  
Cartilage Degradation ◽  
Cell Number ◽  
Blue Staining ◽  
Sham Operation ◽  
Knee Oa ◽  
Sost Gene ◽  
Bone Sclerosis ◽  
The Difference

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.

Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms

Bone ◽  
2002 ◽  
Vol 31 (4) ◽  
pp. 515-519 ◽  
Author(s):  
W Balemans ◽  
D Foernzler ◽  
C Parsons ◽  
M Ebeling ◽  
A Thompson ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Mineral Density ◽  
Sost Gene ◽  
Perimenopausal Women

Investigation of SOST gene polymorphisms in postmenopausal Turkish women: a preliminary study

2011 ◽  
Vol 22 ◽  
pp. S101
Author(s):  
Zehra Sema Ozkan ◽  
Derya Deveci ◽  
Huseyin Yuce
Keyword(s):  
Gene Polymorphisms ◽  
Turkish Women ◽  
Sost Gene ◽  
Preliminary Study

Novel SOST gene mutation in a sclerosteosis patient and her parents

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

scholarly journals Associations of Serum Sclerostin and Polymorphisms in the SOST Gene With Bone Mineral Density and Markers of Bone Metabolism in Postmenopausal Chinese Women

2014 ◽  
Vol 99 (4) ◽  
pp. E665-E673 ◽  
Author(s):  
Jinwei He ◽  
Hao Zhang ◽  
Chun Wang ◽  
Zeng Zhang ◽  
Hua Yue ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Metabolism ◽  
Bone Mineral ◽  
Chinese Women ◽  
Mineral Density ◽  
Sost Gene

A Known SOST Gene Mutation Causes Sclerosteosis in a Familial and an Isolated Case from Brazilian Origin

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

scholarly journals 1α,25-dihydroxyvitamin D3 stimulates human SOST gene expression and sclerostin secretion

2015 ◽  
Vol 413 ◽  
pp. 157-167 ◽  
Author(s):  
Asiri R. Wijenayaka ◽  
Dongqing Yang ◽  
Matthew Prideaux ◽  
Nobuaki Ito ◽  
Masakazu Kogawa ◽  
...  
Keyword(s):  
Gene Expression ◽  
Dihydroxyvitamin D3 ◽  
Sost Gene

Effect of SOST gene deletion on the progression of renal interstitial fibrosis in obstructive kidney injury

Renal Failure ◽  
2015 ◽  
Vol 37 (9) ◽  
pp. 1514-1517 ◽  
Author(s):  
Lu-Fei Wang ◽  
Hao Wu ◽  
Yang Xu ◽  
Meng Deng ◽  
Xiang-Long Han ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Interstitial Fibrosis ◽  
Kidney Injury ◽  
Renal Interstitial Fibrosis ◽  
Sost Gene

Decreased RUNX2, RANKL and sost gene expression in transiliac bone biopsies of men with untreated idiopathic osteoporosis

Bone ◽  
2010 ◽  
Vol 47 ◽  
pp. S183
Author(s):  
J.M. Patsch ◽  
C. Muschitz ◽  
T. Wögerbauer ◽  
A. Berzlanovich ◽  
K. Wahl ◽  
...  
Keyword(s):  
Gene Expression ◽  
Idiopathic Osteoporosis ◽  
Sost Gene ◽  
Bone Biopsies

scholarly journals A Novel Mutation in SOST Gene Causes Sclerosteosis

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A177-A177
Author(s):  
Ebtihal Y Alyusuf ◽  
Aishah A Ekhzaimy ◽  
Ali Alzahrani
Keyword(s):  
Novel Mutation ◽  
Mass Density ◽  
Cranial Nerves ◽  
Wnt Signaling Pathway ◽  
Sella Turcica ◽  
Left Index Finger ◽  
Bone Mass Density ◽  
Loss Of Function ◽  
Blurred Vision ◽  
Sost Gene

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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