Mutations in matrilin-3 have previously been linked to certain skeletal disorders and hand osteoarthritis. But this study, reported in the cover article of the August issue of the American Journal of Pathology, is the first to demonstrate that the loss of the gene leads to osteoarthritis, a joint disease that is caused by deterioration of cartilage, and usually occurs later in life.
"Clearly there is a correlation between matrilin-3 and osteoarthritis. Potentially, we could use it as a diagnostic tool or to predict whether someone is likely to develop osteoarthritis," says senior author Qian Chen, PhD, director of cell and molecular biology, and head of orthopaedic biology research at Rhode Island Hospital.
Chen is also a professor of medical science, and holds the Michael G. Ehrlich Chair in Orthopaedic Research, both at Brown Medical School.
The research has also led to an animal model that can be used to study the development of arthritis in real time, Chen says. Previous research has attempted to pinpoint causes of osteoarthritis through other means, such as looking retrospectively at the causes of the disease or inflicting an injury on a joint to mimic a sports injury or trauma.
"In the long term, it helps us understand the mechanism of human osteoarthritis development. Very few molecules have even been associated with osteoarthritis, so this is a huge deal. Now that matrilin-3 has been clearly shown to develop osteoarthritis in an animal model, we can study it further," Chen says.
There are four matrilins, or proteins, that form the extr