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Skeletal Site-specific Changes in Bone Mass in a Genetic Mouse Model for Human 15q11-13 Duplication Seen in Autism.

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Relation http://ir.cftri.com/13943/
https://dx.doi.org/10.1038/s41598-017-09921-8
 
Title Skeletal Site-specific Changes in
Bone Mass in a Genetic Mouse
Model for Human 15q11-13
Duplication Seen in Autism.
 
Creator Lewis, K. E.
Kunal, Sharan
Takumi, T.
Vijay, K. Yadav
 
Subject 13 Molecular Biochemistry
 
Description Children suffering from autism have been reported to have low bone mineral density and increased
risk for fracture, yet the cellular origin of the bone phenotype remains unknown. Here we have utilized
a mouse model of autism that duplicates 6.3 Mb region of chromosome 7 (Dp/+) corresponding to
a region of chromosome 15q11-13, duplication of which is recurrent in humans to characterize the
bone phenotype. Paternally inherited Dp/+ (patDp/+) mice showed expected increases in the gene
expression in bone, normal postnatal growth and body weight acquisition compared to the littermate
controls. Four weeks-old patDp/+ mice develop a low bone mass phenotype in the appendicular but
not the axial skeleton compared to the littermate controls. This low bone mass in the mutant mice was
secondary to a decrease in the number of osteoblasts and bone formation rate while the osteoclasts
remained relatively unaffected. Further in vitro cell culture experiments and gene expression analysis
revealed a major defect in the proliferation, differentiation and mineralization abilities of patDp/+
osteoblasts while osteoclast differentiation remained unchanged compared to controls. This study
therefore characterizes the structural and cellular bone phenotype in a mouse model of autism that can
be further utilized to investigate therapeutic avenues to treat bone fractures in children with autism.
 
Date 2017
 
Type Article
PeerReviewed
 
Format pdf
 
Language en
 
Identifier http://ir.cftri.com/13943/1/Scientific%20Reports%20%207%209902.pdf
Lewis, K. E. and Kunal, Sharan and Takumi, T. and Vijay, K. Yadav (2017) Skeletal Site-specific Changes in Bone Mass in a Genetic Mouse Model for Human 15q11-13 Duplication Seen in Autism. Scientific Reports, 7. pp. 1-8.