Genetics

Daredevil in Real Life? This Rare Genetic Mutation in Humans Makes Them More Intelligent! | The Weather Channel – Articles from The Weather Channel

Representative Image.  (IANS)

Representative Image.

(IANS)

Most of us quickly think of Spider-Man or the X-Men when someone mentions genetic abnormalities that have the potential to unleash extraordinary talents in us. But what if we told you that this may actually happen in real life?

A recent study published in the journal Brain looks at just this – a rare genetic mutation that causes blindness in humans. These people also continuously displayed an above-average IQ, forcing scientists to suggest a possible link between the two.

This Daredevil-like phenomenon quickly caught the attention of two neurobiologists, Professors Tobias Langenhan and Manfred Heckmann, who became enthralled by this fantastic outcome. They decided that this needed to be replicated to prove that this was not just an aberrance.

“It’s very rare for a mutation to lead to improvement rather than loss of function,” says Langenhan, professor and holder of a chair at the Rudolf Schönheimer Institute of Biochemistry at the Faculty of Medicine.

But what even is a mutation?

Mutations are the driving fuel behind evolution and natural selection in our world. While mutations can be of many types, in the simplest words, a mutation is a change in the structure of a gene.

This alteration is significant because genes carry instructions for the construction of proteins in our bodies. A change in our code carries the potential to butterfly into a variety of large-scale mutations. While these might be beneficial or harmful to us, the latter is usually more common.

For example, the most popular example of harmful mutations are cancers – which we all know to carry devastating consequences. Another lesser-known but popular example is Down Syndrome, which is caused by mutations that increase the number of chromosomes in our cells.

The research takes “flight”

As discussed earlier, it was imperative that the results were replicated to confirm the phenomenon. But as the measurements could not be conducted on the synapses of human brains, the researchers decided to do this the best way they knew how – fruit flies.

“Our research project was designed to insert the patients’ mutation into the corresponding gene in the fly and use techniques such as electrophysiology to test what then happens to the synapses. “It was our assumption that the mutation makes patients so clever because it improves communication between the neurons which involve the injured protein,” Langenhan said.

The two neurobiologists have been using fruit flies to analyze synaptic functions for many years. About 75% of the genes that cause diseases in humans also exist in fruit flies. But in spite of the similarities, fruit flies are no humans (duh!).

They, therefore, had to start by showing that the fly protein called RIM looks molecularly identical to that of humans. This was necessary in order to observe changes in the human brain through the fly.

Once that was done, they produced the same mutations in the flies that looked exactly like the ones in ill humans, and then recorded their electrophysiological synaptic activity measures.

Moment of truth

In a triumphant set of events, the flies did indeed show enhanced brain activity as a result of the experiments – exactly like their human counterparts.

“We actually observed that the animals with the mutation showed a much-increased transmission of information at the synapses,” explained Professor Langenhan.

“This amazing effect on the fly synapses is probably found in the same or a similar way in human patients, and could explain their increased cognitive performance, but also their blindness,” he concluded.

Further, the researchers could also explain why the mutation leads to enhanced transmission. They found that the transmitting nerve cell actually started holding its molecular components much closer together, which helped trigger neurotransmission mechanisms more often – speeding up the entire process.

This sped-up process actually meant that people were able to process more information at the same time, which showed up as enhanced verbal IQ and working memory.

“The project beautifully demonstrates how an extraordinary model animal like the fruit fly can be used to gain a very deep understanding of human brain disease,” said Professor Langenhan, pointing to plans to use similar methods in the future to study developmental brain disorders. development of malignant tumors and obesity.

The study was published in the journal Brain and can be accessed here.

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