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Publication

A zebrafish model for Bruck syndrome caused by PLOD2 mutations

Book Contribution - Book Abstract Conference Contribution

Bruck syndrome, a disorder caused by recessive mutations in either PLOD2 or FKBP10, is characterized by contractures and bone fractures and shows strong clinical overlap with Osteogenesis Imperfecta (OI). Animal models for OI are indispensable for unraveling molecular mechanisms in OI pathogenesis. The zebrafish was recently shown to be a useful vertebrate organism to model OI both at the phenotypic and molecular level. Zebrafish mutants that model OI display generalized reduced bone density and misshapen bones with evidence of fractures. Although the molecular role of PLOD2 has been documented, no animal models for Bruck syndrome, caused by PLOD2 mutations, have been reported. To elucidate the function of PLOD2 in vertebrate skeletal development, zebrafish harbouring a homozygous plod2 nonsense mutation were phenotyped using µCT scanning, alizarin red staining for bone, toluidine blue staining and ultra-thin sectioning. Mutants presented with a shortened body axis and malformed craniofacial structures. The skeleton was severely affected with evidence of bone fragility and fractures, bowing and kinking of the ribs and fin bones. The vertebral column was scoliotic with compressed vertebrae and excessive periosteal bone formation at the vertebral end plates. The observed phenotype is concordant with the clinical findings detected in Bruck Syndrome patients. Therefore, the plod2 zebrafish mutant is a promising model for elucidation of the underlying pathogenetic mechanisms leading to Bruck Syndrome.
Book: Belgian Society of Human Genetics, 15th Annual meeting, Abstracts
Number of pages: 1
Publication year:2015