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- Talk
- Canada
POC5 and Cilia Anomalies in Adolescent Idiopathic Scoliosis
Description
In this presentation, Florina Moldovan discusses her research on the role of the POC5 gene in adolescent idiopathic scoliosis (AIS). She expresses her stress but clarifies that her work is based on fundamental research concerning the genetic anomalies associated with AIS. Moldovan highlights the largely unknown etiology of this condition, noting the suspected involvement of heredity and multiple genes. Recent findings indicate that mutations in the POC5 gene may contribute to the occurrence of AIS, particularly evidenced through a study of a family exhibiting this mutation across four generations.
The POC5 gene is responsible for coding a protein vital for cell division, polarity, and mortality. Her research aims to explore the relationship between POC5 mutations and ciliary function within the context of scoliosis, explaining that both motile and primary cilia play significant roles in various cellular functions, including sensation.
Through in vitro studies using human cells and in vivo studies with zebrafish expressing mutant POC5, the research identifies associations between POC5 mutations and ciliary dysfunctions. Video observations indicate that zebrafish with mutant POC5 display spinal deformities akin to those seen in AIS. Further, anomalies were observed in their photoreceptors, hinting at wider implications for eye and brain development linked to AIS.
Moldovan concludes that POC5 and possibly other genes influence AIS primarily through ciliary anomalies, emphasizing that AIS should be recognized as more than just a spinal deformity, as it may also affect ocular and cognitive functions.