Biologists at South Africa’s University of Cape Town have been leading the way in identifying genes that predispose exercisers to injuring tendons and ligaments. The researchers focused on genes like COL1A1 and COL5A1 that code for the proteins that make up collagen fibrils, the basic building blocks of tendons, ligaments, and skin.
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People with a certain mutation in the COL1A1 gene have brittle bone disease and suffer fractures easily. A particular mutation in the COL5A1 gene causes Ehlers-Danlos syndrome, which confers hyperflexibility. “Those people in the old days of the circus who used to fold themselves into a box, I bet you in most cases they had Ehlers-Danlos syndrome,” says Malcolm Collins, one of the Cape Town biologists and a leader in the study of collagen genes. “They could twist their bodies into positions that you and I can’t because they’ve got very abnormal collagen fibrils.”
Ehlers-Danlos syndrome is rare, but Collins and colleagues have demonstrated that much more common variations in collagen genes influence both flexibility and an individual’s risk of injuries to the connective tissues, like Achilles tendon rupture. Using that research, the company Gknowmix offers collagen gene tests that doctors can order for patients.