Autism Spectrum Disorder
Autism spectrum disorder (ASD) is a disorder that damages the capability to converse and interact. ASD mostly affects the neural system disrupting the emotional, social, and physical health of the affected individual.
NLGN4 gene
Neuroligins or NLGNs are cell adhesion molecules that exhibit special roles in synapse function. This protein comes under a family of neuronal cell surface proteins. A mutation in this gene is known to be associated with Autism Spectrum Disorder.
Mutation in the NLGN4 gene manifest causes in autism-related gene
A recent study conducted at the National Institute of Neurological Disorders and Stroke (NINDS) suggests that males have a greater predilection for ASD as compared to females. Additionally, a single amino acid change in this gene is known to drive this difference even more.
Presence of single X chromosome in males prompts ASD
Genetically, each cell in our body is made up of two sex chromosomes apart from 22 autosomes. Females have two X chromosomes whereas males have one X and Y chromosome. Till date, it was understood that NLGN4Y and NLGN4X genes, code proteins that are 97% alike. However, with the advancement of technology, molecular biology, imaging tools scientists have confirmed that the proteins fixed by these genes exhibit diverse roles.
How the mutation in the NLGN4Y gene does activate the autism-related-gene?
The NLGN4Y protein is not as much of capable to travel to the cells present in the brain cells as a result is it is not able to bring together and sustain synapses. Using various imaging tools, researchers showed that NLGN4Y shows harsh discrepancies in surface expression, maturation, and synaptogenesis maintained by a single amino acid variation with NLGN4X.
In females, there is the presence of two X chromosomes; mutation in a single NLGN4X can activate the other NLGN4X gene to continue its function. However, in males, the mutation in an NLGN4X gene would lead to a loss of function of the specified gene, and therefore NLGN4Y cannot pay off for the efficient shortfalls seen in ASD-associated NLGN4X mutations.
Conclusion
The current study suggests that NLGN4Y fails to compensate for the function of NLGN4X probably as it is a different protein with a distinct function. The knowledge about NLGN4X and NLGN4Y proteins in deep will assist doctors in serving patients with mutations in NLGN4X to recognize their symptoms better.