Galasso Olimpio, Iaccino Enrico, Gallelli Luca, Perrotta Ida, Conforti Francesco, Donato Giuseppe, Gasparini Giorgio
Department of Orthopaedic and Trauma Surgery, University Magna Græcia of Catanzaro, School of Medicine, Catanzaro, Italy.
Orthopedics. 2012 Apr;35(4):e580-4. doi: 10.3928/01477447-20120327-31.
Spontaneous simultaneous bilateral quadriceps tendon rupture is associated with multiple medical conditions and pharmacological treatments; however, identifying prior risk factors is impossible in most cases. Achilles tendon and anterior cruciate ligament ruptures are associated with collagen, type V, alpha 1 (COL5A1) polymorphism. This genetic variant may be implicated quadriceps tendon rupture. The COL5A1 encodes the protein for pro-α1 chains of the low-abundance heterotrimeric type V collagen. In most noncartilaginous tissues, type V collagen is a quantitatively minor component of type I collagen that has been implicated in the regulation of the size and configuration of type I collagen fibrils. The functional significance of COL5A1 polymorphism in relation to type V collagen expression or activity has not been determined.This article describes a patient with COL5A1 polymorphism and spontaneous simultaneous quadriceps tendon rupture. However, genetic and histologic studies performed on blood and tendon tissues and 3 consecutive sex- and age-matched controls showed a statistically significant reduction in collagen type V expression and an alteration in collagen structure in the tendon. These findings might explain the pathomechanisms of spontaneous tendon ruptures associated with COL5A1 polymorphism.
