How Has Genetics Changed Our Understanding of Disc Degeneration?

Abstract

Intervertebral disc degeneration has traditionally been thought to be related to overloading, smoking and ageing. Yet recent work on epidemiological factors and gene mutation detection has demonstrated a high genetic predisposition. Since 2001, the author has recruited some 2500 volunteers from the local population, between 18 and 55 years, and carried out MRI examinations of their lumbar spine. Blood were taken for DNA extraction, and predisposing genes were screened using case-association, genome-wide and family approaches. A number of new genes have been identified, including genes that predispose to osteoarthritis and genes that are either structural components or involved in the regulation of the extracellular matrix. They can result in a 2 to 6 times increased risk of developing disease.Through the discovery of new genes and the understanding of their relative contribution to the etiology of disc degeneration and back pain, a new understanding of this condition is beginning to emerge. This talk will explain some of these concepts for the general orthopaedic surgeon, and discuss how they may be relevant to our clinical practice.