A new genetic cause for osteoporosis and fractures has been discovered by a number of researchers including two from the university of Malta.

The new gene variant, EN1, was identified by a large international study led by researchers from Montreal’s McGill University and Rotterdam’s Erasmus University Medical Centre and which included Angela Xuereb and Melissa Formosa, from the Department of Applied Biomedical Science.

EN1 has a fourfold increased impact on bone mineral density and fractures compared to all other previously reported variants to date.

The identified gene variant was prevalent in one per cent of the population but more frequent among those with the disease, predisposing carriers to an unusually high risk of osteoporosis.

This is the first time that the gene has been linked to osteoporosis in humans, making it a strong target for the development of drugs to treat the condition.

The genetic research involved the participation of more than 500,000 individuals, including those of the Malta Osteoporotic Fracture Study.

Different testing methods were applied to find the rare genetic variants, including the whole-genome sequencing method, and the findings were subsequently confirmed by testing in a number of independent studies. The EN1 gene was also tested on mice, confirming that it affected limb development in mice.

Osteoporosis is a silent bone disease in which bone mass significantly decreases, especially with increasing age, giving rise to an increased fracture risk.