Genes Influence Development of Osteoporosis and Fracture Risk: Study

Osteoporosis is characterized by reduction in bone density, thus causing the bones to become highly fragile and compressible. More women than men develop osteoporosis.

The degeneration of bony tissue is termed as osteoporosis. In osteoporosis, the affected bone becomes porous. This bone disease is silent but highly distressing and it generally affects the elderly people.

In Australia, about 25 percent of females with hip fracture do not survive more than a year. The mortality is higher for men with same problem.

Age also affects the female mortality. It is seen that females above 65 years are more prone to die due to hip fracture than breast cancer.

The causes of osteoporosis are not well defined and are hard to pin down.

Osteoporosis is known to be a genetically-linked disease, however, the responsible gene is still unknown.

According to a research published in the journal Nature Genetics, the experts from the Diamantina Institute at The University of Queensland, have discovered double the number of genes concerned with osteoporosis than previously believed. This is a pioneer attempt as it is the first time that such a large number of genetic variants (56) have been discovered that affect the Bone Mineral Density (BMD) in people susceptible to fractures.

The scientists at the University of Queensland Diamantina Institute (UQDI) are of the opinion that fourteen of theses genetic variants are concerned with direct increase in the risk of fracture.

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Dual Energy X-Ray Absorptiometry (DXA) is used to measure bone mineral density for diagnosis of osteoporosis and for assessing the risk of fracture. This implies that a high BMD reduces the susceptibility to fracture.

Associate Professor Emma Duncan and Professor Matt Brown, the experts from UQDI led a group of researchers from Australia, Europe, North America and East Asia. They analyzed more than 50 different studies involving more than 80,000 people with DXA scans. More than 30,000 fracture cases and 100,000 control cases were examined.

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"The Australian Osteoporosis Genetics Consortium played a key role in this recent paper. Our own study, involving bone researchers from Australia, New Zealand and the United Kingdom, and supported by the National Health and Medical Research Council of Australia, was particularly important because of our unique approach of recruiting individuals with more extreme bone density. This meant that although we contributed a modest number of individuals to this current study, their impact was disproportionately powerful; and as a consequence the Australian contribution was the most powerful individual component of the entire project overall," mentioned professor Emma Duncan.

The responsibility of identifying the molecular pathways useful for therapeutic applications rested with Dr. Dana Willner.

The study author and Assistant Professor of Erasmus Medical Centre in Rotterdam, Dr. Fernando Rivadeneira said, "Such potential is highlighted by the identification (among others) of genes encoding proteins that are currently subject to novel bone medications. Yet, even more interesting is the identification of several factors that can constitute targets for true bone-building drugs."

This important study has improved the understanding of the fracture susceptibility, skeletal biology and skeletal health.

Reference:

1. http://www.drugdiscoverytoday.com/view/25476/researchers-discover-genes-for-fracture-susceptibility-and-osteoporosis-risk/

2. http://www.drugdiscoverytoday.com/category/209/pharmacology-therapeutics/

Source-Medindia