INTERVERTEBRAL DISC DEGENERATION LINKED TO STRUCTURAL GENE VARIATIONS

Abstract

During the recent past focus has shifted from identifying intervertebral disc degeneration as being caused
by physical exposure and strain to being linked with a variety of genetic variations. The objective of this
review is to provide an up to date review of the existing research data regarding the relation of intervertebral
disc degeneration to structural protein genes and their polymorphisms and thus help clearly establish
further avenues where research into causation and treatment is needed. A comprehensive search using the
keywords “Collagen”, “COL”, “Aggrecan”, “AGC”, “IVDD”, “intervertebral disc degeneration”, and
“lumbar disc degeneration” from PubMed and Google Scholar, where literature in the English language was
selected spanning from 1991 to 2019. There are many genes involved in the production of structural components
of an intervertebral disc. The issues in production of these components involve the over-expression or
under-expression of their genes, and single nucleotide polymorphisms and variable number of tandem
repeats affecting their structures. These structural genes include primarily the collagen and the aggrecan
genes. While genetic and environmental factors all come into play with a disease process like disc degeneration,
the bulk of research now shows the significantly larger impact of hereditary over exposure. While
further research is needed into some of the lesser studied genes linked to IVDD and also the racial variations
in genetic makeup, the focus in the near future should be on establishment of genetic testing to identify
individuals at greater risk of disease and deliberation regarding the use of gene therapy to prevent disc
degeneration.