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The Blog of Dr. Ann Conn


Lumbar Disc Degeneration Associated with Genetic Mutation

1/8/2014 12:22 pm
Posted by Dr. Ann Conn

A large genetic study in families with early onset of lumbar disc disease revealed a gene mutation linked to the enzymes that form the ‘jelly’ within lumbar discs.  This mutation impaired the key enzyme that provides hydration of the center of the disc.  The study was lead by a team from the University of Hong Kong and involved over 30,000 subjects.

The affected enzyme helps maintain water content within the nucleus pulposus, the soft jelly-like center of the disc, that distributes pressure within the disc.  Therefore, the group with the mutations experiences early drying of the disc and degeneration.  The analysis of the subjects disc disease was adjusted for age, gender and body mass.

I have personally observed families with early onset lumbar disc disease.  We have care for three generations of families concurrently with the youngest family member starting in their 20’s.  This study and several other are helping us understand these observations.  And, hopefully lead to treatments.

At our Northshore clinic in Mandeville, we diagnosis and treat using the most current information and medical literature.

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