The role of mutations in aging
The effect of congenital genetic mutations on aging was stronger than acquired ones
This conclusion was made by scientists based on data analysis of about 40 thousand people
The accumulation of mutations during life does not affect the rate of aging so much compared to rare congenital mutations. This conclusion was reached by scientists from Russia and the USA, they published their study in the scientific journal eLife (Shindyapina et al., Germline burden of rare damaging variants negatively affects human healthspan and lifespan). Gero's press service writes about this briefly.
"We have shown that the accumulation of mutations during life does not lead to an accelerated increase in the risk of disease or death as a person's age increases. Such observations challenge some popular hypotheses about the causes of aging," explained the founder and scientific director of the company, Peter Fedichev.
In recent years, debates have resumed among scientists about what constitutes the aging process of humans and all multicellular animals. Some of them assume that this process is not accidental, it is controlled by the "death program". It is an interconnected set of genes that "causes" the body to age and die, giving way to a new generation of people or other living beings.
Other scientists believe that aging is completely random in nature, it occurs by itself as a result of the accumulation of mutations and accidental breakdowns in cells. As recent experiments by scientists from the University of Rochester have shown, cleaning the body of worms from damaged cells with the help of gene therapy significantly prolonged their life.
Fedichev and his colleagues found out which types of mutations – congenital or acquired in the course of life – have a stronger effect on a person's life expectancy and how quickly his organs and tissues age. To do this, scientists analyzed data from the UK Biobank genomic project, which involved more than 400 thousand British volunteers.
The participants of this initiative agreed to donate their DNA for analysis, undergo a comprehensive medical examination and answer a number of surveys about their lifestyle and various bad habits. Russian and American researchers studied their genomes and selected 40,000 UK Biobank participants who were most similar to each other from a genetic point of view.
This allowed them to study how the aging process is affected by very rare mutations, due to which unexpected "stop signals" appear inside the genes and shortened forms of proteins are formed. In addition, scientists have tracked how the accumulation of any "typos" in the genome affects the aging of the body and the development of various age-related diseases.
Calculations have shown that those mutations that were in the human DNA from birth or were inherited from parents shortened life and accelerated aging to a greater extent than other types of gene damage. On average, there were six such gene damages in the genomes of the study participants, which shortened life expectancy by 1.4 years and accelerated the onset of age-related diseases by 0.4 years.
"The role of rare damaging mutations that reduce overall and healthy life expectancy has been largely overlooked. They are unique for each person, but all together they show an unexpectedly large effect on life expectancy," explained the head of the work, a professor at Moscow State University and Harvard University (USA) Vadim Gladyshev.
All these discoveries, as scientists note, significantly change the generally accepted ideas about the role mutations play in the aging process and how they affect the likelihood of developing cancer, chronic lung diseases, dementia or cardiac problems.
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