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CHAPTER 2
GENETICS
GENETICS AND MEDICINE

Оглавление

Human genes are like little computer programs, embedded in humans since ancient times. For example, tens of thousands of years ago the insulin receptor gene in adipose tissue made sense for our ancestors: it helped to store as many calories as possible at a time when food was always in short supply. Today, however, humans have no need to forget hunger, so the gene does more harm than good: problems such as overweight and obesity develop at double speed. The modern computer age requires humans to update their genetic code, and scientists already can modify it.

Many see the possibility of defeating many serious diseases, including cancer, in genetics. Today, there are promising gene therapies against cancer – they allow us to edit DNA information. This enables specialists to "remove" harmful genes and activate useful ones.

FUN FACT

THE WORLD'S FIRST HUMAN-APE HYBRID

In 2019, an international team of scientists from China, the United States, and Spain, led by Spanish biologist Juan Carlos Izpisua, created the world's first chimera ape embryo with human cells. The experiment was conducted in China because there are allowed experiments with gene modification, but due to ethical qualms, the embryo was given only 14 days to live.

Chimeras are animals or plants whose cells contain genetically distinct material. According to scientists, the creation of such organisms will help solve the transplantation issue, because human organs can be grown in them.

In 2014, scientists at the Massachusetts Institute of Technology discovered one of the mechanisms of genome editing, CRISPR/Cas9. This technology allows cutting double-stranded DNA anywhere, while other methods have their limitations and are more difficult to perform. With this method, it has become possible to perform faster and more precise modification of DNA in the genome, as well as to introduce more than one gene into a modifiable organism at a time. This method is cheaper and simpler than previous developments. Not surprisingly, CRISPR/Cas9 has been used more in recent years and is finding new applications.

Specialists are developing customized programs to significantly improve overall health: techniques such as genome analysis, gene therapy, and molecular diagnostics using biomarkers are already yielding positive results in animal experiments. And in 2021, the first human study of Alzheimer's disease gene therapy was launched: researchers from the University of California, San Diego injected patients with a harmless virus that can activate a gene associated with slowing and preventing the process of neurodegeneration.

FUN FACT

THE SECRET OF YOUTH LIES IN "JUMPING GENES"

The question of what biological mechanisms underlie eternal youth has been troubling scientists for decades. The answer, experts believe, may lie in the DNA of the long-lived insects – termites.

On average, termites live from two months to two years when it comes to workers and soldiers, but their queens live ten times longer (from 25 to 50 years). If termites lived as long as humans, monarchs would reach the age of 1,000 years.

A team of scientists led by Professor Judith Korb of the University of Freiburg found that aging in termites of Macrotermes bellicosus species is associated with the activity of mobile genetic elements, or "jumping genes" – self-copied DNA elements that can move independently and thereby disrupt the normal functioning of other genes nearby, leading ultimately to aging and death. In monarchs, jumping genes are inactive, so these insects are well protected from aging. However, scientists must find out how they managed to suppress this mechanism.

Many diseases are based on genetic disorders or genetic predisposition. By identifying the genes that cause a particular disease, we can start treatment or prevention in time. Recently, the polymerase chain reaction (PCR) method has been widely used, which allows to multiply of a DNA segment into billions of copies in a few hours. For PCR tests, we can use just one cell or a small sample of tissue. This is very important, for example, for early diagnosis of diseases: we can take one embryo cell obtained by fertilization in vitro, perform genetic screening and, if necessary, carry out the treatment of the unborn child. Over time, this can have a positive impact on the health of future generations by reducing the spread of disease.

Scientists are actively studying anti-aging methods and identifying the genes that control this process. For example, they compare the genome of old and young people and use a computer to identify where the most genetic damage occurs.

In addition, it is known that aging is caused by telomere shortening during cell division. Telomeres are located at the ends of chromosomes and they protect DNA. At the end of the XX century, it was discovered that the activation of telomerase, which is responsible for telomere lengthening, makes a single cell immortal. The anti-aging potential of telomerase has been discussed for many years.

Scientists have developed special injections of the telomerase gene, TERT. The specific approach of using TERT therapy was confirmed by molecular biologist Maria Blasco in mice, where she prolonged both the average survival and the maximum age of the animals[25]. In one group, mice received TERT injections at 420 days of age, which increased median survival by 24 % and maximum life expectancy by 13 %. In another group, rodents received injections at 720 days of age, which helped increase median survival by 20 % and maximum life expectancy by 13 %.

The results suggest that gene therapy may not only conquer all genetic disorders but also help humanity to defeat aging and death in the future.

25

Povedano J. M., Martinez P., Serrano R., et al. Therapeutic effects of telomerase in mice with pulmonary fibrosis induced by damage to the lungs and short telomeres. Elife. 2018;7:e31299. Published 2018 Jan 30. doi:10.7554/eLife.31299.

The Power Of Youth. How To Tune Our Mind And Body For A Long And Healthy Life

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