A breakthrough by Australian researchers could be the first step in a new treatment for people with arthritis.

Australian scientists have discovered the gene that causes the severe form of osteoarthritis. The gene called TRPV4 acts like guard to how much calcium can enter a cell and is important to cartilage function. When the gene fails to act properly, the cartilage doesn't get the required amount of calcium and consequently breaks down, causing severe pain and stiffness in the hands and feet.

The discovery by doctors at Melbourne's Murdoch Children's Research Institute could potentially bring about new drugs for arthritis and other chronic pain conditions.

"If we could increase the function of the gate, then maybe we could reverse or prevent the process of arthritis. It's a big first step in drug development," Victorian Clinical Genetics Services Professor Ravi Savarirayan said.

"It's very exciting. It opens the way for screening for family members."

The genetic discovery was based on research on members of a Victorian family that suffer from a severe form of hand osteoarthritis. Researchers who studied the family found that all members who were affected by osteoarthritis had the faulty gene TRPV4. The results were compared to other data collected from another family in Germany who also suffered from osteoarthritis. It was discovered that both families had the same genetic mutation.

"If we can keep this gene active, we may be able to slow down arthritis, which would be amazing," said researcher Dr. Shireen Lamande, from the Murdoch Children's Research Institute.

"We are at the very early stages though."

The research could also lead to new treatments that could keep the cartilage healthy or prevent its breakdown entirely. Although any new treatment could still be years in the future, discovering the faulty gene is another step in developing a treatment.

"If we can come up with a molecule that can regenerate cartilage or prevent its breakdown, which is what causes arthritis, it may be several years off but this is a key step in that journey," Savarirayan said.