WA-based study identifies genetic basis for tendon and ligament injuries

A team from UWA has identified a protein involved with the health of tendons and ligaments.

Injuries affecting tendons and ligaments are one of the most common musculoskeletal injuries, affecting millions of people every year.  In fact, Australia has the highest incident of anterior cruciate ligament rupture in the world.  These injuries are usually caused by damage to the soft tissues that connect muscles and joints. However, the genetic basis of these injuries is not fully understood.

Now, a team led by Prof Minghao Zheng, from the UWA Medical School and Perron Institute, has identified a protein with a critical role in the health of tendons. Secreted protein acidic and rich in cysteine or SPARC, is a protein required by tendons for healthy development and functioning.

The new study, published in the prestigious journal Science Translational Medicine, showed that mice lacking the gene coding for SPARC had an increased incidence of tendon and ligament rupture when subjected to exercise.  The study also used three-dimensional tendon constructs to show that absence of this gene led to deficient production of collagen, an essential protein found in connective tissue.

The situation observed in mice is likely to apply in humans, Prof Zheng thinks. The research group has identified a mutation in the SPARC gene that is linked to tendon and ligament injuries in humans.  According to Prof Zheng, people harbouring this mutation, who engage in competitive sport activities or even in normal exercise, can easily damage their tendons or ligaments.

“This is a very interesting study as it is the first time that we have identified a genetic factor in tendon matrix that senses mechanical loading.  It suggests that tendon and ligament rupture practically in young kids may be a result of interplay between genes and exercise.” Professor Zheng said.

Prof Zheng has previously developed autologous tendon stem cell injection technology for the treatment of tendinopathy and tendon injury. This new study further advances the management and prevention of tendon and ligament injuries, Prof. Zheng explains.