July 14, 2024

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Scientists discover gene that shapes our bones

Scientists discover gene that shapes our bones


Scientists discover gene that shapes our bones.

Using artificial intelligence to scrutinize tens of thousands of X-rays and genetic sequences, a team of researchers at The University of Texas at Austin and the New York Genome Center has successfully identified the genes that shape our bones, from the width of our shoulders to the length of our legs .

The groundbreaking research, published as the cover story in the journal Science, not only sheds light on our evolutionary history, it also paves the way for future doctors to more accurately assess a patient’s likelihood of developing conditions like back pain or arthritis later in life the way.


Scientists discover gene that shapes our bones



“Our study is a strong case for the impact of artificial intelligence on medicine, especially in analyzing and quantifying imaging data,” said Vagheesh Narasimhan, assistant professor of integrative biology and of statistics and data science. And when integrating that information with health records and genetics at speed and scale.”


Humans are the only large primate with legs longer than arms, and this change in skeletal morphology is crucial to being able to walk on two legs.

Scientists are trying to determine which genetic changes account for the anatomical differences that are clearly visible in the fossil record of modern humans, from Australian hominids to Neanderthals.

They also want to understand how these proportions of bones that allow bipedalism affect the risk of many musculoskeletal diseases, such as knee and hip arthritis — conditions that affect billions of people worldwide and are the leading cause of adult disability in the United States.


The researchers used a deep learning model to automatically quantify 39,000 medical images, measuring distances between shoulders, knees, ankles and other points on the body. By comparing these measurements to each person’s genetic sequence, they found 145 points in the genome that control bone proportions.


“Our work provides a roadmap for linking specific genes to Linking bone lengths in different parts of the body allows developmental biologists to study these genes systematically.”


Scientists discover gene that shapes our bones



The team also looked at the relationship of skeletal proportions to major musculoskeletal disorders, showing that people with a greater hip width-to-height ratio were more likely to develop osteoarthritis and hip pain.

Likewise, people with a higher femur (thigh bone) length-to-height ratio are more likely to suffer from knee arthritis, knee pain, and other knee disorders. People with a higher trunk length to height ratio are more likely to suffer from back pain.


“These diseases develop because of the biomechanical stress on the joints throughout life,” said Eucharist Kun, a graduate student in biochemistry at UT Austin and first author of the paper. “Skeletal proportions affect everything from our gait to how we sit, so they It’s also plausible to be a risk factor for these diseases.”


Their findings also have implications for our understanding of evolution. The researchers noticed that several segments of genes that control bone proportions overlapped more than expected with regions of the genome known as human acceleration zones.

These regions are regions of the genome that are shared by great apes and many vertebrates but differ significantly in humans. This provides a genomic basis for differences in our skeletal anatomy.


One of the most enduring images of the Renaissance—Leonardo da Vinci’s Vitruvian Man—contains a similar conception of the proportions and lengths of the limbs, among other elements that make up the human body.


Narasiman said: “In a way, we are solving the same problem that Da Vinci struggled with. What is the basic human form and its proportions? But we are now using modern methods, and at the same time Find out how these ratios are genetically determined.”





Scientists discover gene that shapes our bones

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