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Collagen type V polymorphism in spontaneous quadriceps tendon ruptures.
Olimpio Galasso1, Enrico Iaccino, Luca Gallelli
1Department of Orthopaedic and Trauma Surgery, University Magna Græcia of Catanzaro, School of Medicine, Catanzaro, Italy. galasso@unicz.it
Orthopedics
|April 13, 2012
Summary
Collagen type V alpha 1 (COL5A1) gene variants are linked to quadriceps tendon rupture. This study found reduced collagen type V expression and altered structure in patients with this polymorphism, explaining rupture mechanisms.
Area of Science:
- Biochemistry
- Genetics
- Orthopedic Surgery
Background:
- Spontaneous quadriceps tendon rupture is often idiopathic.
- Polymorphisms in the collagen, type V, alpha 1 (COL5A1) gene are associated with Achilles tendon and anterior cruciate ligament ruptures.
Observation:
- A patient with COL5A1 polymorphism experienced simultaneous bilateral quadriceps tendon rupture.
- Histologic and genetic analyses were performed on the patient's tendon and blood samples, along with controls.
Findings:
- A statistically significant reduction in collagen type V expression was observed.
- Alterations in collagen structure within the tendon tissue were identified in the patient with COL5A1 polymorphism.
Implications:
- COL5A1 polymorphism may contribute to quadriceps tendon rupture pathogenesis.
- Reduced collagen type V expression and altered structure could underlie spontaneous tendon ruptures.
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