A recent study, led by researchers based at McMaster University, has identified a gene that could well be responsible for developmental disorders including, but not limited to, autism.
The team discovered alterations of the gene Kinase 2 which is known to play a direct role in disorders such as autism. Researchers hail this to be a comprehensive study that eclipses previous studies suggesting the involvement of the Kinase gene.
Autism is a complex developmental condition which involves identification of causative genes that are hampered by a plethora of inherent complexities. Autism condition is attributed to multiple hampered genetic interactions and a combination of external factors such as environmental interactions and deep penetrance of specific individual genes.
The autism gene requires encoding of protein that involves molecular networks which are responsible in controlling the formation and function of multiple glutamate synapses. It also controls the submicron structure of the gene that connects with the individual.
Karun Singh, researcher, and co-author of the study, from McMaster’s Stem Cell and Cancer Research Institute explains, “Our studies in understanding the condition reveal complex brain disorders that involve the loss of many genes, specifically ones that could play a major damaging role in causing symptoms to be altered in the patients.”
Singh further comments, “This has to be exciting since our research focuses on a specific gene that not only speeds up targeted development, it also saves us money and time.”
Neurodevelopmental disorders are primarily caused by large chunks of missing pieces in an individual’s genome which contain several genes combined going by the term, ‘Micro-Deletion.’ Nevertheless, ensuring an accurate gene-diagnosis assists doctors in predicting patient outcomes and helps in determining if newer treatments could be made available.
The researchers further proceeded to use genetically engineered models in tandem with computer algorithms to study human genomes that allowed them to conclude specific genes involved. Singh further explained, “Our next step during the course of study is to screen drugs that help in correcting cognitive brain deficits that are caused by mutations in genes before we can proceed further to launch pilot clinical trials.”
Dr. Singh has previously led studies involving gene micro-deletions and has been successful. Mick Bhatia, director of McMaster’s Stem Cell and Cancer Research Institute comments, “The investments that have been allocated to Dr. Singh and his research team to study and understand the key developments involving multiple collaborations has progressed beyond our initial expectations.
Dr. Bhatia further explains, “The combination of stem cell technologies and patient-specific genetics are likely to be transformative in understanding the future of brain disorders.”