Scientists have successfully performed a test involving a new drug to restore social behaviors via stimulation using genetically modified mice as part of a case study. The drug, Nitrosynapsin, was electrically adjusted to suit the brain and behavioral abnormalities in the modified mice.
The Nitrosynapsin drug is intended to correctly restore the electrical signal imbalance in the brain of an individual. Scientists believe this could be a path-breaking discovery as electrical signal imbalance is virtually present in all forms of ASD cases.
Stuart Lipton, a senior investigator, and a clinical neurologist, explains, “The drug needs to be further experimented and deeper studies need to be performed and we are hopeful of its effectiveness against varied forms of the autism spectrum disorder.”
The research involved a successful collaboration that involved scientists from the University of California, Scintillon Institute, and San Diego School of Medicine. Fellow investigators of the team led by Lipton include Dr. Shichun Tu and Dr. Bobuki Nakanishi based out of Scintillon Institute in San Diego.
The autism spectrum is a developmental disorder that is seen to affect 1 in 68 children in the USA alone according to the census data available with the authorities. As per the estimates, an average of 0.5% of girls and 2.4% of boys in the United States are diagnosed with autism.
The present study dates back to 1993 involving an earlier study which had Lipton as its lead at the Harvard Medical School. The team successfully identified a gene known as MEF2C that was considered to be a potential factor in the development of the brain.
This path-breaking discovery led the team to understand the genetically modified mice involving MEF2C in the region of the brain during the early stages of fetal development.
Further, the data highlighted abnormal fetal developments in the pregnant mice that led their pups to be born with severe disabilities similar to autism disorder. This discovery led to other studies trying to uncover similar links involving mice and the Nitrosynapsin drug. Multiple studies have highlighted many children diagnosed with autism showing similar traits.
Researchers believe this could be a result of one mutation arising out of MEF2C. The condition is also known as MEF2C Haplo Insufficiency Syndrome (MHS).
Lipton explains, “This important discovery in humans was possible because it could be experimented initially in the genetically modified mice, which explains the importance of basic science.”
The researchers had a unique laboratory developed consisting of engineered mice for the purpose of this specific study to understand the functioning of the mice versions of MEF2C, in comparison to earlier known multiple genetic mutational copies. The mice were seen to display memory loss, anxiety behaviors and unusual monotonous movements.
The team comments, “The careful analysis of the mice brains revealed a plethora of complexities, including but not limited to excess excitatory signals causing the abnormal firing of neurons in the brain.”
The two critical brain signals were seen to be out of balance. Researchers note a similar kind of imbalanced signal making its way into most of the autism-related cases and believe this could provide an explanation into understanding one of the core features involved in the disorder.
The team led by Lipton is currently involved in having the drug tested in advanced mice models to replicate and understand other autism disorders.