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Early- onset osteoporosis (EOOP) is defined as low bone density (BMD), which increases the risk of fractures
.
EOOP is a rare osteoporosis that affects children and young people under 55 years of age without any secondary causes
Osteoporotic children
In EOOP, several genes have been identified, among which genes involved in the Wnt pathway have a great advantage
.
In human and animal models, Wnt signaling is a key regulator of osteoblast differentiation and maturation, mediated by typical Wnt/β-catenin and atypical signaling pathways
So far, 19 Wnt ligands have been found to be related to bones and joints
.
The first described in osteoporosis is WNT3a, which activates the β-catenin/canonical pathway through LRP5 binding
Although several pathogenic genes have been identified, some of the causes of EOOP are still unresolved
.
Whole exome sequencing results showed that in a 4-year-old boy with low bone density and fracture, a new heterozygous loss-of-function mutation occurred in WNT11 (NM_004626.
In WNT11 heterozygous mutant cells, WNT11mRNA and protein levels were reduced, cell proliferation and mineralization were reduced
.
A) The electrophoresis pattern shows that the 32bp deletion causes a frame shift
.
Fs*: FramesShift
In summary, we found that WNT11 is a new gene related to EOOP, and its loss-of-function variants inhibit bone formation through Wnt canonical and non-canonical pathways
.
WNT11 may induce RSPO2-LGR5 complex to activate Wnt signal through atypical Wnt pathway
Literature source: Silva CC, Edouard T, Fradin M, WNT11, a new gene associated with early-onset osteoporosis, is required for osteoblastogenesis, Hum Mol Genet 2021 Dec 07;
Silva CC, Edouard T, Fradin M,WNT11, a new gene associated with early-onset osteoporosis, is required for osteoblastogenesis, Hum Mol Genet 2021 Dec 07;
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