How gene mutations lead to higher intelligence

Drosophila sp fly. Credit: Muhammad Mahdi Karim / Wikipedia. GNU Free Documentation License, Version 1.2

When genes are mutated, this can lead to serious diseases of the human nervous system. Researchers at the University of Leipzig and the University of Würzburg have used fruit flies to show that in addition to the negative effects of neuron gene mutations, they also have a positive effect, namely, higher IQ in humans. They announced the discovery in a magazine brain.

Synapses are communication points in the brain through which nerve cells “talk” to each other. Disruption of this connection leads to diseases of the nervous system, because altered synaptic proteins, for example, can disrupt this complex molecular mechanism. These are mild symptoms, but can also lead to very severe disabilities in affected people.

Professor Tobias Langenhan and Professor Manfred Heckman, two neurobiologists from Leipzig and Würzburg, became interested when they read in a scientific publication about a mutation that damaged a synaptic protein. At first, the patients attracted the attention of scientists because mutations caused them to go blind. However, doctors then found that the patients were also moderately intelligent. Langenhan, a professor at the Rudolf Schonheimer Institute of Biochemistry at the Faculty of Medicine and head of the department, says:

Two neurobiologists from Leipzig and Würzburg have been using fruit flies for many years to analyze synaptic functions. “Our research project was designed to use methods such as electrophysiology to insert patients’ mutations into the fly’s appropriate gene and test what happens to synapses. We thought the mutation would make patients smarter because it improved communication between patients. Neurons containing injured protein,” explains Lanhan. Of course, you cannot perform these measurements on the synapses of the human brain. You have to use animal models to do that. “

Three-quarters of the genes that cause disease in humans are also present in fruit flies

First, researchers, in collaboration with Oxford researchers, showed that a fly protein called RIM is molecularly similar to humans. This fly was essential for studying changes in the human brain. In the next step, neurobiologists introduced mutations into the fly’s genome that looked like those of a sick person. They then took electrophysiological measurements of synaptic activity. “We’ve actually seen a significant increase in synaptic transmission in mutated animals. This remarkable effect on the synapses of flies is likely to occur in one way or another in human patients and could explain their increased cognitive abilities,” he said. Langenhan.

Researchers have also discovered how increased conduction occurs at synapses: the molecular components in a conductive nerve cell that excite synaptic impulses come closer together as a result of mutations, leading to an increase in neurotransmitters. The new method was one of the methods used in the study of super-resolution microscopy. “It gives us a tool to look at and even count individual molecules, and confirms that the molecules in a fuel cell are closer together than usual,” said Professor Langenhan, who assisted Professor Hartmut Schmidt’s research team. Karl Ludwig Institute in Leipzig.

“The project is a great example of how amazing animal models such as fruit flies can be used to better understand human brain disease. Animals are genetically very similar to humans. About 75 percent of the genes that make up human diseases are estimated. They are also found in fruit flies,” said Langenhan. showing further research on this topic. ”We have launched several joint projects with the team of human geneticists, pathologists and the Integrated Research and Treatment Center (IFB) AdiposityDiseases; Located at the University of Leipzig Hospital, they are studying the development of brain disorders, malignancies and obesity. Here, we also introduce disease-causing mutations in fruit flies to replicate and better understand human disease. ”

Discovery of the “me or” signal involved in the synaptic cross-section and maturation of new neurons in the adult brain

More information:
Mila M. Paul et al., CORD7 mutation, which improves human cognition, increases the number of active zones and synaptic output, brain (2022). DOI: 10.1093 / brain / awac011

Magazine information:

Presented by the University of Leipzig

Quote: How gene mutations lead to higher intelligence (May 10, 2022) Retrieved May 11, 2022 from

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