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Finnish researchers pinpoint genetic mutation behind osteoporosis

Finnish researchers have identified a new genetic mutation that causes osteoporosis or bone mass degeneration. The discovery has important implications for the development of osteoporosis medication.

Tutkimusta Itä-Suomen yliopistolla.
Finnish researchers have unveiled a genetic mutation that causes osteoporosis. Image: YLE / Toni Pitkänen

The results of research led by Docent Outi Mäkinen were published in The New England Journal of Medicine Thursday.

The research team discovered a mutation in the WNT-1 gene in the 12 chromosome that altered the development of normal bone as well as important signaling activities in maintaining bone mass. The factors were indicated in the presence of childhood as well as early-onset osteoporosis.

Osteoporosis is characterised by a loss of bone density and a weakening of the skeletal microstructure, which later leads to fragility of the bones and an increased susceptibility to breakage.

Heredity is one of the most important factors determining bone strength. However, up to now only a few genetic factors have been implicated in the risk of developing osteoporosis.

“The majority of osteoporosis medications prevent bone from breaking up. Our findings provide the possibility for developing medication that will promote bone formation,” Mäkitie said of the research.

Study of siblings revealed mutation

Mäkitie’s research team began their study in 2006. They mapped the genetic mutation by studying siblings affected by osteoporosis.

Several members of one Finnish family had been diagnosed with inherited early onset osteoporosis, which was characterised by factors such as low bone mineral density, vertebral collapse fractures, and a significant height reduction in adulthood.

Researchers found that these severe manifestations of the disease had been caused by mutations in the WNT-1 gene.

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