Synapses are the locations in the brain where nerve cells communicate with one another. Because changed synaptic proteins might hamper this complicated chemical pathway, disruptions in this communication lead to nervous system illnesses. This can cause modest symptoms as well as serious disability in those who are affected.
Gene mutation that destroys synaptic protein contributes to high IQ
Professor Manfred Heckmann of Würzburg and Professor Tobias Langenhan of Leipzig, both neurobiologists, were piqued when they encountered in a scientific journal about a gene mutation that destroys a synaptic protein. The affected individuals initially drew investigators’ interest since the disease rendered them blind. However, doctors then discovered that the individuals had above-average IQ as well.
Langenhan, who is also a member of Rudolf Schönheimer Institute of Biochemistry at the Faculty of Medicine, said, “It’s very rare for a mutation to lead to improvement rather than loss of function.”
Neurologists have been using fruit flies in analyzing synaptic functions over the years. Langenhan said that their research endeavor aimed to implant the individuals’ mutation into a fruit fly’s relevant gene and afterward assess what transpires toward the synapses using electrophysiology. It is vital to note that 75% of the disease-causing genes in people are also available in fruit flies.
Langenhan explained, “It was our assumption that the mutation makes patients so clever because it improves communication between the neurons which involve the injured protein. Of course, you can’t conduct these measurements on the synapses in the brains of human patients. You have to use animal models for that.”
RIM protein in fruit fly used to study changes in the human brain
The scientists and colleagues from Oxford demonstrated that the fruit fly protein known as RIM has the same molecular biology as humans. The protein was instrumental in the study of changes in the brain. They also inserted mutations to the fly genome, replicating that of diseased people.
Results showed increased information transmission at the synapses in animals with mutations. This effect is possibly found in human patients, and it might explain the reason for enhanced cognitive performance and blindness of the patients.
