Genetic Basis of Intervertebral Disc Degeneration

Genetics is an area of study that connects genes with functions, variations with phenotypes, and, of most interest to scientists and clinicians, mutations with diseases. According to the Online Mendelian Inheritance in Man (OMIM), an online catalog for human genes and Mendelian disorders, over 3,000 known “genotype-phenotype” pairs have been recorded. A direct application of such knowledge is diagnosis, of which prenatal testing and newborn screening of rare conditions are common nowadays; ideally, this would be extended in future for disease prevention or the development of personalized medicine. It is clear that our understanding of disease mechanism of rare skeletal disorders such as osteogenesis imperfecta (OI), spondyloepiphyseal dysplasia (SED), achondroplasia, and Ehlers-Danlos syndrome (EDS) has come directly from knowing the genes involved, allowing detailed in vitro and in vivo functional studies. While more difficult for common disorders such as intervertebral disc degeneration, the same principle can be applied, bearing in mind the effect size, the number of genes involved, and contributions from environment factors. These are the issues that this chapter will address systematically, namely, to provide the basic concepts of what genetic studies can achieve and with the benefit of hindsight from studies of similar disorders such as osteoarthritis (OA) to generate a road map for studies of intervertebral disc degeneration

Protein and gene expression profiles of the intervertebral disc: in health and disease

Oral Presentations: Session 4 - Cancer, Cell Biology and Musculoskeletal System: 4.15The 13th Research Postgraduate Symposium (RPS 2008), the University of Hong Kong, Hong Kong, 10-11 December 2008

Use of tandem mass spectrometry as a tool for proteomics studies in aging and degeneration processes of the intervertebral disc

International Society for the Study of the Lumbar Spine (ISSLS) - Biochemistry: Poster Presentation: no. P24

Transcriptome of the human intervertebral disc in health and disease

Symposium 2 - Disc degeneration mechanisms: S2.9The 2010 World Forum for Spine Research (WFSR 2010): The Intervertebral Disc, Montreal, Canada, 5-8 July 2010

Cholesterol biosynthesis is a potential pathway involved in the degeneration of the annulus fibrosus

Posters: P1060The 2010 World Forum for Spine Research (WFSR 2010): The Intervertebral Disc, Montreal, Canada, 5-8 July 2010