Scientists from the Toyko Institute of Technology have found genetic mutations responsible for Cushing’s disease, a potentially fatal glandular condition.
Symptoms of Cushing’s disease include weight gain, muscular weakness, mood and reproductive problems.
If left untreated, Cushing’s patients can die from infection and cardiovascular issues.
In the study, published in Nature Genetics, the team applied a DNA sequence, known as “exome sequencing” to the pituitary corticotrophin adenoma.
The scientists exome-sequenced samples from 10 patients with Cushing’s disease and noticed a small number of protein altering mutations in the adenoma tissue.
Scientists then identified the gene harbouring the mutations as uniquitin-specific protease 8 (USP8), and were able to pinpoint the area of USP8 prone to mutation in Cushing’s disease.
The researchers say their results “not only identify the first of so far enigmatic driver mutations in corticotroph adenomas, but also elucidate a novel mechanism by which the epidermal growth factor receptor pathway is constitutively activated in human tumours.”
The scientists say further research will be needed to gain a detailed understanding of the genetic onset of the disease.
For the full findings from the study, visit www.nature.com/ng/journal/vaop/ncurrent/full/ng.3166.html