Detect signs of this debilitating disease with AI before the bones begin to break
Melissa Formosa is an osteoporosis expert at MSIDA’s University of Malta. She shares the story of the Alphafold.
Currently, drugs rely too much on radiographic imaging techniques to diagnose osteoporosis. It is a debilitating disease that develops slowly over several years, weakening bones and dangerously prone to breakage. Such diagnostic x-ray tools have their own limitations and detect osteoporosis after they have been developed. This means it’s already too late to properly control it.
People tend to think of bones as constant, but this is a misconception. They are actually highly active organs made of connective tissue that is enhanced with calcium and unique bone cells, most of which also contains bone marrow, where blood cells are produced. Bone tissue is constantly replenished throughout our lifetimes, and these specialized cells absorb old tissues and lay new tissues. These processes work hand in hand to maintain a healthy, powerful skeleton.
The complex nature of bones means that there are many different mechanisms through which osteoporosis can develop. Osteoporosis injuries can be extremely painful and often debilitating. For example, if someone breaks your back, it may require permanent hospital care.
The disease predominantly affects older women. One in three women over the age of 50 are diagnosed with osteoporosis, while one in five men in the same age range suffer from osteoporosis. Research into how and why it occurs in some people is often not overlooked by scientific research, but it is becoming increasingly clear that osteoporosis has an important genetic component. Masu.
Take the Wnt1 gene, which is activated in osteoblasts, cells that produce bone. Mutations in this gene disrupt the process of building bones. In other words, people with this genetic mutation have fragile bones and suffer from early onset osteoporosis. Such findings are important in demonstrating that osteoporosis is not the case and can no longer be considered a disease affecting the elderly.
However, the first sign of osteoporosis is present, the fractures are still fractures. All we need is to find biomarkers. Blood tests or identified genes or proteins can be searched for in people who have been predisposed or at high risk of developing osteoporosis. We need to help people fight illness before it starts.
To do this, we use Alphafold to give a more complete understanding of genetic causes. We quickly realized that it could use it to revolutionize the development of personalized medicine. In this case, a model that can provide tailor-made prevention and treatment strategies to defined groups of individuals.
After that, the sick person was able to sequence the genome. This genetic analysis will provide better ideas and, importantly, allow a person to take preventive actions if they are at risk of a fracture in the near future. It also allows patients to understand disease progression and allow them to have more control over which interventions are best. Ultimately, the goal is to manage osteoporosis as early as possible and prevent the progression, fractures, pain and debilitating that they bring.
Entering the amino acid sequence into the AlphaFold software creates a 3D image of the protein structure, allowing you to compare protein structures encoded by both normal and defective genes. Using AlphaFold allows you to visualize the effects of specific genetic variation, but some of it may only cause subtle structural changes. Others cause significant deformations in proteins, reducing their ability to function properly, and contribute to disease.
Ultimately, we develop simple blood tests for young adults that can help predict disease, and we can develop new disease-related genes and proteins so that we can develop better drugs to treat them. I’m aiming to find it. Early detection and the introduction of personalized medicine could mean that osteoporosis can be managed more effectively. Millions of lives could be significantly improved.
This kind of AI is becoming central to our work and will become important for future researchers in this field. We finally have the chance to stay one step ahead of this debilitating disease – it is valuable.
