April 22, 2021

The mutant mouse of Patty Bonet | Science

The mutant mouse of Patty Bonet | Science


The geneticist Lluís Montoliu and the actress Patty Bonet, with their genetically modified mouse.

"When I was eight, they took me on a trip to see a movie at a movie theater and I remember being separated from my school and they put me in the front row so I could see the screen well, with children from another school. There you see that you are different. Also, my school left and they left me forgotten. That's where my love for movies began, I think, because they left me there alone, "he says. Patty Bonet, an actress and journalist born in Valencia 34 years ago.

Bonet is on tour with the play Empty shells together with his colleague Jesús Vidal, recently awarded with the Goya prize for his role in the movie Champions. In the editing, six actors interpret six people with some type of disability, with the background of the operation T4, the code name of the Nazi program designed to kill in the gas chamber people with "lives unworthy of being lived" .

The actress is missing one of the 3,000 million letters of the instruction manual that we have in each of our cells

The "different" of Patty Bonet is that it lacks one of the 3,000 million letters of the instruction manual that we all have in each of our cells. A single letter. Specifically, it lacks a C in the gene SLC45A2, a sufficient mutation to generate a type of albinism characterized by the lack of skin pigmentation and the lack of visual acuity. The actress has less than 10% vision, which does not prevent her from being "a restless ass" with many projects. "I am not sick. I do not medicate myself for being albino or something degenerative. It is a genetic condition. I was born that way ", ditch.

In the film Avatar, of James Cameron, human beings are able to transport their mind to the bodies of humanoid beings, with blue skin and feline features. And, somehow, Bonet has an avatar. The team of the Barcelona geneticist Lluís Montoliu has created a mouse with exactly the same mutation as the actress, thanks to CRISPR, a revolutionary genetic editing technique that promises to save millions of lives if it is proven effective and safe in humans.

On Tuesday, Bonet visited the National Center of Biotechnology (CNB), in Madrid, to meet his rodent avatar for the first time. "Oh! I've been bitten by one! "Exclaims the animal's technique while handling a group of genetically modified mice. "He will be the one who has my mutation, because we are quarrelsome," jokes Bonet. "Notice that it has a very whitish color, but it is not exactly white," says the Catalan researcher, pointing to a mouse without the letter C in the gene SLC45A2. "And the little feet are pink," adds the actress.

Patty Bonet (left) in a scene from the play 'Empty Shells'.
Patty Bonet (left) in a scene from the play 'Empty Shells'.

The geneticist mentions the case of Patty Bonet in her new book, Editing genes: cut out, paste and color (Next Door Publishers), a meticulous and didactic work on "the wonderful CRISPR tools", molecular scissors invented in 2013 from a phenomenon observed in bacteria by the Spanish microbiologist Francis Mojica.

The Montoliu team was a pioneer in the art of crisperize mice in Spain. They have about 1,500 copies in the laboratory, most of them genetically modified to study albinism. In the laboratory, Montoliu also keeps a cut of the eyes of Copito de Nieve, the legendary albino gorilla of the zoo in Barcelona, ​​who also had a mutation in the gene SLC45A2.

Montoliu keeps in his laboratory a cut of the eyes of Copito de Nieve, the legendary albino gorilla of the zoo of Barcelona

Humanity, according to the geneticist, has been generating mutant mice for more than 30 years. The Jackson Laboratory, in Bar Harbor (USA), estimates that to date have been genetically modified mice to represent some 1,500 human diseases, less than 10% of the 18,000 known pathologies. "With CRISPR we can do what we used to do with other techniques, but in a third of the time and with a tenth of the money," Montoliu celebrates. "It's a real revolution. There is a before and after".

Now, the intention of the researcher is to use the lineage of mice with the Patty Bonet mutation to test two drugs, levodopa and nitisinone, both promising to reverse the loss of visual acuity caused by albinism. "I do not know if a day will come when I can enjoy these advances, but it does comfort me to think that in the future, or in future generations, research with these mice will help people with albinism to see a little better. ", Reflects the actress.

"There is no intact and constant human genome, but there are as many human genomes as there are people on Earth," says Montoliu in his book. "Any of us shares approximately 99.9% of its genome with another person. We differ by only 0.01%, enough to be genetically different, fortunately. "

"I start that each person is unique," agrees Patty Bonet. "Everyone has a disability. I have a role that certifies it, but another person may have an emotional, emotional or a fear that costs him a lot to overcome. Why is not that considered a disability? "He asks. "More than you see yourself different, society treats you as someone different. I am happy as I am. And, really, I think society has the problem. "

"CRISPR sounds like a dog"

The word laser is the Spanish adaptation of the English acronym To be, initials light amplification by stimulated emission of radiation (amplification of light by stimulated emission of radiation). The term CRISPR, however, still has no adaptation to Spanish, despite the fact that it was the researcher Francis Mojica, from the University of Alicante, who proposed his name in 2001, by the acronym in English of "short palindromic repetitions grouped and regularly spaced ", In reference to a phenomenon without explanation observed in the genome of the microbes of the Santa Pola saltworks. Geli, the couple from Mojica, warned him that CRISPR sounded to him in the name of a dog, as the geneticist Lluís Montoliu sarcastically recalls in his book Editing genes: cut out, paste and color.

Mojica detected those repeated genetic sequences in the summer of 1992. For two decades, the microbiologist investigated them almost alone, with a break to perform military service, then mandatory for Spanish men. In 2003, his team discovered that those mysterious repeated stretches were DNA fragments of viruses inserted into the DNA of bacteria. It was a kind of genetic vaccination card that many species of bacteria and archaea inherited from their mothers. It was a discovery that could be worth the Nobel, according to Montoliu.

The microbes collect information about the viruses that attack them and store this Photography in your own DNA. When the invader attacks again, the bacteria recognize the aggressor's DNA and send molecular scissors to dismember it. In 2013, French biochemist Emmanuelle Charpentier and American chemist Jennifer Doudna discovered that the CRISPR mechanism can be copied to edit any genome, including the human. The book of Montoliu details this revolution until its last chapter: the abominable creation in China of two genetically modified babies to be, supposedly, immune to the AIDS virus.

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