Genetic observation reveals a bone-weakening mechanism

Bone structure and firmness partly rely on some genes. © Inserm -  Daniel Chappa
Bone structure and firmness partly rely on some genes. © Inserm - Daniel Chappard
A research team has used a novel method to identify a gene involved in bone building. "Real life genetics" works. This research method involves observing physiological traits or metabolic disease in a large population of "wild-type" mice (those which have not been genetically modified), and then isolating the genes that could be responsible. Because it's complex and expensive, the method is rarely used, but it has nonetheless enabled EPFL researchers to obtain interesting results. An articledescribes how the method was used to reveal a dysfunctional bone mineralization process. "We compared the genotype of mice with a fragile bone structure with mice that were more robust," explains Evan Williams, a scientist in EPFL's Laboratory for Integrative and Systemic Physiology (LISP). "By observing their genes, we were able to identify the one responsible for alkaline phosphatase (ALPL), whose malfunction leads to various forms of bone disease." A factor in osteoporosis - Scientists were already familiar with hypophosphatase, a human disease caused by the absence of this gene that leads to extreme skeletal fragility from a very young age.
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