Genes and diseases: new data

The DNA database has allowed scientists to get closer to the genetic causes of diseases

Polit.<url> according to the Guardian: DNA database brings scientists closer to pinpointing genes for disease

DNA analysis of more than 60 thousand people allowed us to identify genetic signs indicating a high probability of a number of diseases. Scientists have identified more than three thousand mutations that may play a role in the development of diseases.

The work was aimed at connecting clinical data about patients with information about their genome. The study focused on those parts of DNA that encode the information needed for protein synthesis. In total, they make up about 2% of the human genome. According to the lead author of the study, Daniel MacArthur, who works at the Massachusetts Institute of Technology and Harvard, it is in the protein-coding regions that most of the mutations associated with severe hereditary diseases are concentrated. The study was the result of an international project ExAC (EXome Aggregation Consortium – VM), during which it was possible to collect information from 60,706 people from all over the world about the DNA regions encoding the protein. Scientists have found only about 7.5 million genetic variants, more than half of which, according to MacArthur, were found in only one person out of 60 thousand. Most of the identified mutations are described for the first time.

The study also revealed that there are 3,230 genes that have significantly fewer genetic variants capable of leading to gene inactivation than expected. This means that many of these genes are probably involved in vital processes in the cell. Scientists believe that serious genetic mutations in these genes can lead to negative consequences, in particular to serious diseases. So far, such cases are known only for a little more than 20% of these genes. Scientists also managed to refute the previously proposed link with diseases for 160 mutations. The results of the study are published in the journal Nature (Lek et al., Analysis of protein-coding genetic variation in 60,706 humans).

In a separate study, also conducted on the Exac DNA database, scientists from the Royal Brompton Hospital and the University of Oxford were able to reduce the number of mutations for which a link with cardiomyopathy is assumed. In the journal Genetics in Medicine, they describe how they compared the data of almost eight thousand of their patients with the ExAC database and found that 40 out of 48 genes that were previously thought to be associated with cardiomyopathy are actually unlikely to cause this disease (Walsh et al., Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples).

At the moment, the Exac database includes data on the genomes of people from different regions of the Earth, including Latin America, Africa, and the Middle East. However, a number of other regions, for example, Central Asia, are not represented in it. Ewan Birney from the European Bioinformatics Center in Cambridge says that getting information about them will be the next stage in the development of the project.

Portal "Eternal youth" http://vechnayamolodost.ru  26.08.2016