New research shows promise for osteoarthritis cure
Louisa Wright
August 31, 2021
Osteoarthritis is a crippling, incurable disease. But scientists behind a new large-scale study say their findings could help pave the way to a cure.
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A group of international researchers has found promising clues to help develop a cure for osteoarthritis after discovering new genetic risk factors for the disease.
Osteoarthritis is the most common form of arthritis and often occurs in the hands, feet, hips, knees and spine. There is no cure.
The disease affects more than 500 million people worldwide, according to the 2019 Global Burden of Disease study, and disproportionately affects women. It is a leading cause of disability due to the severe pain it can cause.
People develop osteoarthritis when the protective cartilage that cushions the bones in their joints begins to break down, causing the bones to rub together.
The study, published in the journal Cell on August 26, was led by the Helmholtz Center Munich in Germany. It is the largest study on osteoarthritis to date, including data from more than 825,000 people of European and East Asian descent.
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A cure on the horizon?
The study uncovered "high-value drug targets" for potential treatments. A so-called drug target is a molecule in the body that is linked to the way a disease process plays out, and could be altered using a drug. Such targets are important in helping to stop disease progression in the body.
The researchers were able to identify these targets by pinpointing genes that were likely the cause for osteoarthritis.
Many of these genes signify molecules that are the targets of existing approved drugs and drugs that are currently in clinical development.
"We have confidently identified 100 different genetic risk variants — changes in the DNA sequence — for osteoarthritis, 52 of which had not been associated with the disease before," said Eleftheria Zeggini, director of the Institute of Translational Genomics at the Helmholtz Center in Munich.
Their findings provide more evidence that multiple drugs in development are on the right track, as well as point to new ways existing drugs could be used to help osteoarthritis sufferers, Zeggini told DW.
Heightened risk for weight-bearing joints, women
The researchers also identified differences in disease risk for non-weight-bearing joints, such as the wrists and elbows, compared to weight-bearing joints, such as the knees and hips that help carry our body weight when we stand and walk.
The study also uncovered the first ever female-specific genetic risk factors for developing the disease, and the first risk factors for early-onset of the disease, as well as genetic links between osteoarthritis and its main symptom — pain.
"Because we have investigated osteoarthritis in multiple joints, we have also identified specific genetic changes that underpin the risk for all forms of osteoarthritis. Some of these genes may prove to be validated as therapeutic targets for osteoarthritis, regardless of the joint affected," said study co-author Cindy Boer from Erasmus MC University Medical Center in the Netherlands in a press release.
Genetic risk factors are however not easily explained — they can often be complex and difficult to be aware of without knowledge of a person's family history or genetic testing.
More clinical studies will be needed to figure out exactly how to target the right genes and proteins, as well as how different drugs could help relieve patients suffering from osteoarthritis.
Synesthesia – when sounds are colors, tastes and smells
Some people see numbers in different colors, feel noises, taste letters and smell pictures. This natural connection of different sensations is called synesthesia. One in 25 people have it worldwide, including Lady Gaga.
Image: Mike Machian
When sounds become colors and tastes
Musician Kaitlyn Hova sees the music she plays in colors. To show the world what she sees, she built a glowing violin that lights up in different colors when different notes are played. People with this perception associate different senses (like sight and sound, taste and touch) in their heads. This is called synesthesia. Four percent of people are 'synesthetes'. How do they perceive the world?
Image: Mike Machian
Caroline Beier
Caroline Beier is a doctor in Hamburg, Germany. Her synesthesia helped her to remember things better in school because she sees letters and numbers in different colors and in 3D: for example, eight is always a cucumber-green, three is grass-green, four is yellow like the sun and number two creamy-white.
Image: Privat
A mathematical sum comes to life
To remember 18 x 18, she sees two dark green cucumbers in a light-green vegetable stand with a yellow and white-striped awning.
Image: DW
The spectrum of sound
Sounds can also be associated with colors. This helps Alexandra Kirschner in her profession as a voice trainer for a boys' choir near Stuttgart. She hears different voices in different colors.
Image: Privat
Higher voices are yellow, lower are blue
For Alexandra, higher voices are often yellow, and lower voices are dark blue. When someone sings, she sees the tones as circles in front of her. If one tone is off, the color of the circle is grey, blurry and out of line.
Image: DW
A colorful sense of touch
If one has a form of synesthesia, the chance of experiencing a connection of more sensations is higher. Not only sounds trigger colors for Alexandra Kirschner, but also touch. If she pinches her arm briefly, for example, a pinkish light-blue ellipse appears in her head as if drawn by a pencil. Colors can also trigger tastes. When she sees a pink wool sweater she tastes strawberry ice cream.
Image: DW
Colors can also make sounds
It isn't just the case that people see the color of sound — colors can also evoke sounds. Musician Katja Krüger automatically hears certain tones when she sees certain colours. As with almost all synesthetes, the connections developed when she was a child — before she even played an instrument.
Image: Privat
Red like an oboe
When Katja sees a red balloon in front of her, she hears the note "A" played by an oboe.
Image: DW
What Nefertiti sounds like
Once Krüger even wrote down the sound of a Nefertiti statue in music notes. If she looks at the colours of Nefertiti's head from bottom to top, she can transform them into notes. From this she has written a whole piece of music.
Image: DW
Martin Schmiederer
Some people, like Martin Schmiederer, have many forms of synesthesia at once. So there can be quite a lot going on in his head. The scientist and philosopher can remember passages of text well with his color and sound codes. Despite his 21 forms of synesthesia, he rarely experiences a sensory overload. He is able to concentrate on several perceptions, but can also ignore them.
Image: Privat
Tastes like a visit to the dentist
For him, different sensory experiences are like blocks building up on top of each other. He sees colors in different places. For example, when hearing the lowercase 'k', Martin sees it in the upper left corner of the room in a blackish-green in 3D. When he reads it, he tastes something that reminds him of the dentist. If he speaks it, the tone produces a color that appears at the bottom right.
All sensations at once
Synesthesia is not a disease, but simply another way of perceiving things. Most people find their additional sensations pleasant, but they can also push them into the background. Alexandra Kirschner and Martin Schmiederer, for example, both say that they don't like to wear scratchy woollen sweaters because this feeling evokes an unpleasant color.
Image: DW
It runs in the family
Synesthesia isn't just an illusion. MRI scans have shown that the brain areas are active for different senses. There are also genetic connections. But many people don't know they have synesthesia because their impressions are completely normal. Famous synesthetes include Lady Gaga, Pharell Williams, as well as artist Wassily Kandinsky and philosopher Ludwig Wittgenstein.