Study Reveals Two Genes Connected With Osteoporosis


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The scientists have recently used a combination of the powerful tools to recognize two genes that lead to osteoporosis by affecting the bone density. These findings can help discover better treatments for this disease.
The study was led the researchers present at the Children’s Hospital of Philadelphia. It highlighted how it was the need of the hour to understand the 3D geography of the human genome in the genes triggering this disease.
In a paper published in Nature Communications, the researchers have explained how they use 3D geography of DNA taken from the bone-forming cells to find genes that influence the bone mineral density.
The scientists suggest how these methods can help the researchers investigate other genetic problems and pediatric issues.
The Genome and Osteoporosis
Osteoporosis refers to a disease that weakens the bones while increasing the risk of fractures, especially in the bones forming the hips, spine, and the wrist. Bone tissue is considered as living since it keeps on adding new bone while removing the old one. During childhood, this process of bone formation is greatly favored which allows the bones to grow while getting stronger.
However, as the people tend to age, the bone formation process peaks and then starts lagging behind the bone removal. This results in a decreased bone density which eventually weakens the bones.
As per the Natural Institutes of Health, more than 53 million people in the U.S. alone have developed osteoporosis or are at an increased risk of developing it owing to a low bone mineral density.
Scientists have been working on the human genome for years and have been successful at unraveling it a decade ago. Since then, many variants of DNA have been found, especially in those suffering from particular diseases.
In the present study, scientists have also found a genetic component linked with osteoporosis.
3D Genomic Mapping
The basic purpose of this study was to use the locations of bone mineral density locations using high-resolution gene mapping in the human osteoblasts i.e. the cells responsible for making new bone.
This study involved the analysis of 3D geography of the DNA present within the chromosome. The researchers used spatial genomics to map the genome-wide interactions between the variants as well as the rest of the human genome.
While doing so, the scientists observed consistent contacts to potential causal genes from 17 percent of the locations that they researched.
This led to the discovery of two genes that were thought to play an important role in causing osteoporosis i.e. ING3 and EPDR1. The researchers confirmed the roles of these genes by silencing them and noticing how this stops the osteoblasts from developing new bones.
The researchers have noticed how there is a possibility of having new causative genes in addition to these two. However, they have mentioned how the variants similar to these genes are strongly associated with the density of the wrist bone which is one of the commonest fracture sites in children.
Further studies exploring the biological pathway for ING3 have been warranted to use its existence in treatments.


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Samantha Issac
Samantha is a graduate of Medicine with masters in Public Health. Most of her writings are in medicinal tools, technology, and treatments. In addition to that, she is a freelance healthcare writer based in the USA.

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