Researchers at Chungnam National University has found a new gene that causes Armfield syndrome, a disorder accompanied by developmental and intellectual disabilities, and identified the mechanism of action at the molecular level.
Armfield syndrome, first reported in 1999, is also a major cause of autism. The disease is an X-chromosome-related intellectual disorder that affects only men.
The team, led by Professor Kim Cheol-hee, found FAM50A as a candidate gene for Armfield syndrome through a four-generation family tree analysis, gene mapping, and patient genome big data in 2015. Director Charles Schwartz at the Greenwood Genetic Center in the U.S. also participated in the study.
To verify their results, the team conducted a zebrafish model animal experiment using genetic scissors technology and RNA transcript and protein big data analysis. The researchers then identified the action principle of FAM50A at the molecular level, and finally confirmed that the gene as a causative agent of intellectual disability.
The finding is the outcome of 20 years of research efforts from patient reporting to the discovery and verification of the causative gene,” the team said. “Thanks to advances in patient genome big data analysis technology and cutting-edge genetic scissors technology, we could present a breakthrough in the field of developmental and intellectual disability research, whose causes were unknown in the past.”
Professor Kim said, “The intellectual disorder and epileptic gene discovered in 2015 laid the cornerstone for the global patient foundation establishment in 2018, and it can be used as a molecular diagnostic biomarker.”
This study can also be used as a biomarker for early molecular diagnosis in the short term, and as a source technology for developing therapeutics through disease modeling in the mid- to long term, he added.
The journal Nature Communications published the study in its July edition.