Mutation Leads to Higher Intelligence
Synapses are the contact points in the brain through which nerve cells "talk" to each other. If altered proteins are inserted into the synapses through a gene mutation, they can disrupt communication and trigger diseases of the nervous system. Mild symptoms as well as severe disabilities can result.
A scientific publication that showed that a mutation in humans alters the synaptic protein RIM caught the attention of Professor Manfred Heckmann—a neurophysiologist at Würzburg—and Professor Tobias Langenhan—a biochemist at Leipzig and Würzburg alumnus. The two professors have been analyzing synaptic functions for years. They use the fruit fly Drosophila melanogaster as a model organism.
Rare Mutation Leads to Increased Intelligence and Blindness
The publication reported that people affected by the mutation were identified because it caused blindness. However, the doctors treating the patients also noticed that the patients had above-average intelligence. Mutations that lead to an improvement instead of just a loss of function are very rare indeed.
The scientists came up with a plan: they wanted to insert the mutation observed in the patients into the corresponding gene of a fruit fly to see which functional and structural changes could then be observed in the synapses. Of course, measuring synapses in the brains of affected humans isn’t possible, which is why animal models are needed.
Increased Release of Neurotransmitters
"Our assumption was that the mutation increases intelligence by influencing the communication between nerve cells in which the modified protein is involved in a favorable way," says Dr. Mila Marie Paul, first author of the publication in the journal Brain and and a member of Heckmann’s team at the Department of Physiology – Focus on Neurophysiology at the Julius-Maximilians-Universität Würzburg (JMU).
High Genetic Similarity to Humans
Paul's project shows very well how fruit flies can be used as a model to understand the basics of human brain diseases. Fruit flies have a high genetic similarity to humans, and it is estimated that 75 percent of the genes that can trigger diseases in humans are also found in fruit flies.
Support for Early Career Scientists in Medicine
Paul has been researching in Heckmann's team since 2009. She is mainly involved in high-resolution imaging of pre-synapses and synaptic plasticity. She also works as a specialist and senior physician in orthopaedics/trauma surgery at the Department of Trauma, Hand, Plastic and Reconstruction Surgery at the University Hospital Würzburg under the supervision of Prof. Rainer Meffert.
With the support of a habilitation scholarship from the Würzburg Interdisciplinary Center for Clinical Research (IZKF) she is continuing her research focusing on traumatic brain injury in animal models. The IZKF supports interdisciplinary research projects as well as young scientists in medicine. Paul was also supported by a mentoring program.
JMU offers comparable mentoring and coaching programs in English for international scientists. Paul encourages young researchers to pursue these opportunities: "In my experience, much can be achieved through courage and perseverance. Sometimes compromises are necessary, but if you stick to your goals, you will achieve them."
JMU Research Academy
Supporting early career researchers is a major concern of Julius-Maximilians-Universität Würzburg. JMU Research Academy maintains a network of all services that offer academic staff with professional development opportunities. It also provides services for international researchers, doctoral students, and postdocs, as well as professors. The JMU Research Academy is responsible for training, coaching, and mentoring opportunities designed to empower scientists along their career paths.
The "Scientia International Program"
The University Women's Representative Office offers the SCIENTIA International program, a one-year career and mentoring program specifically designed for female international scientists. This program facilitates the integration of foreign researchers into German research life and helps sustain further individual and professional growth. Mentors help support researchers, who can also attend workshops and gain practical advice and individualized help from program coordinators.
