Detecting a mutant gene causes bone disorder

According to a study published in the March 2011 issue of Nature Genetics, scientists have discovered a single mutant gene that causes Hajdu-Cheney syndrome, an induced disorder. progressive bone loss and osteoporosis make bones more likely to break.

Currently, only about 50 cases of known Hajdu-Cheney (HCS) syndrome are known, in which severe osteoporosis is a major feature.

Osteoporosis is a disease that makes bones weak and brittle. With this condition, bones are more likely to break than normal. Just a slight collision or fall can cause severe bone fractures.

British scientists at the National Institute of Health Research (NIHR) have conducted a genetic analysis of the causes of HCS syndrome to detect the role of genes in causing osteoporosis. Currently, the rate of osteoporosis in the UK is half in women and in men is 1/5.

Using an advanced technique to identify disease-causing genes, called exome sequences, scientists have identified NOTCH2 as a disease-causing gene. Later, the research team confirmed this finding in another 12 families affected by osteoporosis, the results also showed that 11 families had changes in the same segment of the NOTCH2 gene.

Professor Richard Trembath, one of the study authors, said: " So far, we have learned very little about the genetic mechanisms that cause bone diseases. These findings will help us better understand. about HCS syndrome and create an important foundation for future research on more common forms of osteoporosis ".