Scientists discover the genes shaping our skeletons

A new study has pinpointed the genes that shape our skeletons.Credit: University of Texas at Austin.

You might wonder why we stand on two feet while our close relatives in the animal kingdom, like chimpanzees, don’t.

Or why some people are more likely to suffer from back pain or arthritis as they get older. Thanks to a groundbreaking study, we’re getting closer to answers.

Scientists have used artificial intelligence (AI) to discover genes that determine the shape and size of our skeletons.

Researchers from The University of Texas at Austin and New York Genome Center used AI to examine thousands of X-ray images and genetic sequences. They were looking for genes that influence everything from how broad our shoulders are to how long our legs are.

The findings, published in the journal Science, can help us understand more about our evolution. They also give doctors a tool to predict who might develop conditions like back pain or arthritis in the future.

Vagheesh Narasimhan, the leader of the research team, believes their work shows how AI can transform medicine. AI can quickly and efficiently analyze massive amounts of data, like X-ray images, health records, and genetic information.

Our ancestors started walking on two feet millions of years ago. This unique trait separates us from other large primates and has had a big impact on our skeleton. The research team wanted to figure out which genetic changes made this possible.

They also aimed to understand how these changes affect our risk of developing musculoskeletal diseases, like arthritis.

By using AI to analyze medical images and then comparing these with genetic data, the researchers found 145 points in our DNA that control the shape of our skeleton.

Co-author of the study, Tarjinder Singh, explained that their work links specific genes to the size and shape of different parts of the body. This finding is a treasure trove for scientists studying how our bodies develop.

The study also found that our skeletal shape can predict our risk of developing certain diseases. For instance, people with wider hips relative to their height were more likely to get hip arthritis and hip pain. Those with longer thigh bones relative to their height were at greater risk of knee arthritis and knee pain. Meanwhile, a longer torso relative to height increased the chances of back pain.

Lead author Eucharist Kun pointed out that the way we move and sit, which is influenced by our skeleton, can contribute to these health issues.

Finally, the study offers a fascinating glimpse into our evolution. Certain genes that control our skeleton were found in parts of our DNA that have evolved significantly in humans compared to other animals. This discovery helps explain why our skeletons are so unique.

In a way, the researchers are asking the same questions as Leonardo Da Vinci did when he drew “The Vitruvian Man”. They are studying the basic human form and proportions. But now, they are using modern tools to find out how these traits are decided by our genes.

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