Have you heard of Armfield syndrome? It is considered to be the main cause of autism and tends to only occur in men. Scientists have been researching the disorder for quite some time and have finally made an amazing breakthrough.
According to research conducted by Chungnam National University, it has been found that there is a new gene that causes Armfield syndrome. For those of you that do not know what Armfield syndrome is, it is a disorder which is accompanied by intellectual and developmental disabilities. The research focused on understanding the mechanism of action at the very molecular level.
Kim Chul-Hee, the Chungnam National University professor who headed the research along with his team has discovered a new gene which might be to blame for Armfield syndrome. The disorder was first reported back in 1999 and is considered to be the main cause of autism. It is referred to as a chromosome X-linked Intellectual disability which only affects men.
The candidate gene that has been linked to Armfield syndrome is FAM50A after conducting a four-generation family tress analysis, patient genome big data, and gene mapping in 2015. Charles Schwartz, the director at the Greenwood Genetic Center located in the United States also took part in the research.
A zebra-fish model animal experiment was conducted by the team to verify the results using RNA transcript and genetic scissors technology and protein big data analysis. Then, the researchers identified FAM50A as the action principle at the very molecular level. Finally, it was confirmed that the gene is responsible as the causative agent for the intellectual disability.
The study showed pedigrees of the five families that were included in the research. It was found that the FAM50A genotype was given to each available person. There are even photographs of the males who had been affected in each of the pedigree.
Genetic scissors technology was used by the researchers to produce a Zebra Fish Knockout animal model. It helped eliminate the function of the PAM50A. The reason why a zebrafish was used is because of the fact that it has a similar genetic makeup as humans. It is commonly used in studies as an animal model.
Abnormalities in nerve development were found when the FEM50A gene function of the zebra-fish was removed. Even though the normal zebra-fish had the feature of moving in the group, there was a lack of sociality in the knockout model which is a quality found in autism. The team of researchers was able to explain that out of the 1,100 X-chromosome genes, 28 of which were found to be related to developmental and intellectual disabilities. Moreover, 29 genes were found with the recognition of the candidate’s genes.
The finding has been a result of 20 years worth of research which includes patient reporting, the discovery of the causative gene, and its verification. The advancement of innovative genetic scissors technology and patient genome big data analysis technology has helped achieve the breakthrough. The gene can be used as a diagnostic biomarker for early diagnosis of development disorders and intellectual disabilities (a biological indicator of the progress of diseases).