Scientists have discovered genes associated with the development of three rare diseases through large-scale genetic analysis. It is expected that rapid diagnosis through genetic testing will be possible for these diseases whose causes were unknown.
A research team led by Professor Ernest Tooro of Icahn Medical School at Mount Sinai in the US analyzed the genes of 77,539 people and published the results of a study that newly identified the causative genes of three rare diseases, primary lymphedema, thoracic aortic aneurysm, and congenital hearing loss, in an international journal on the 16th (local time). It was published in Nature Medicine.
Primary lymphedema is widespread body swelling. It is different from edema caused by trauma or surgery, and it mainly occurs in young women or girls. A thoracic aortic aneurysm is a condition that occurs in the chest when the diameter of the aorta increases to 1.5 times or more. In congenital hearing loss, which causes abnormalities in auditory function, there is no gurgling sound at around 6 weeks of age, and symptoms of not babbling even following 3 months of age appear. Previously, these diseases were presumed to be caused by genetic causes, but the exact causative gene has not been identified.
The research team analyzed the data of 77,539 people who participated in the UK’s ‘100,000 Genome Project’, which constitutes large-scale genome big data, to find the causative genes of these diseases. The Bayesian inference method was used to find the association between vast genetic data and rare diseases. After constructing a virtual model of disease onset, genetic information is added step by step to review the possibility of the virtual model becoming a reality.
Through this analysis, the research team newly discovered 19 genes that are presumed to be related to rare diseases. In order to determine whether these genes are related to a specific rare disease, previous clinical cases and previous studies were reviewed and experiments were conducted to prove a causal relationship.
As a result, it was found that the development of primary lymphedema was related to the loss of function of a gene called ‘ERG’. This gene was associated with changes in red blood cells. The occurrence of thoracic aortic aneurysm was confirmed to be related to the gene ‘PMEPA1’, which stimulates the growth of normal cells, and the occurrence of congenital hearing loss to the gene ‘GPR156’, which causes mutations in the normal function of each body organ.
Professor Turo, who led the study, said, “This study is expected to enable genetic diagnosis of rare diseases whose causes have not been explained before.” “he said.