title: Collagen type V polymorphism in spontaneous quadriceps tendon ruptures.
abstract: 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.
authors.affiliation: Department of Orthopaedic and Trauma Surgery, University Magna Græcia of Catanzaro, School of Medicine, Catanzaro, Italy. galasso@unicz.it
authors.forename: Olimpio
authors.initials: O
authors.lastname: Galasso
authors.forename: Enrico
authors.initials: E
authors.lastname: Iaccino
authors.forename: Luca
authors.initials: L
authors.lastname: Gallelli
authors.forename: Ida
authors.initials: I
authors.lastname: Perrotta
authors.forename: Francesco
authors.initials: F
authors.lastname: Conforti
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Donato
authors.forename: Giorgio
authors.initials: G
authors.lastname: Gasparini
mesh_terms: D024062:Collagen Type V / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D012422:Rupture, Spontaneous; D013708:Tendon Injuries / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D013848:Thigh
chemical_list: D024062:Collagen Type V