genetics

genetics

genetics

Environment influences health and aging much more than genetics, study finds

An international team has analyzed data from nearly half a million people to analyze the influence of genes or environment on mortality, age-related diseases and aging. Although the relationship may vary according to the type of disease, their conclusions are that the environment -especially socioeconomic conditions, smoking habits and physical exercise- has a much greater influence than genetics in all the aspects studied. Among other data, environment explains 17 % of the variation in mortality risk, while genetics is limited to 2 %. The results are published in the journal Nature Medicine. 

Genetic diversity has decreased in more than 600 species in the last three decades

A meta-analysis that brings together data from 628 species of animals, plants and other organisms in terrestrial and marine ecosystems over the last three decades shows that most are losing genetic diversity, especially mammals and birds. ‘The threats affected two thirds of the populations we analysed and less than half are subject to conservation management measures,’ say the authors of the research, published in Nature.

Cells ‘remember’ obesity through epigenetic changes, which could explain the ‘yo-yo effect’

Adipose tissue retains a ‘memory’ of obesity through cellular transcriptional and epigenetic changes that persist after weight loss, which may increase the likelihood of regaining weight, experiments in human and mouse cells show. The findings, published in Nature, could help explain the problematic ‘yo-yo effect’, the rapid weight rebound often seen with dieting. 

First mapping of the human spliceosome, the machinery that allows multiplying the variety of proteins from the same DNA

A team of researchers led by the Center for Genomic Regulation in Barcelona has mapped the human spliceosome for the first time. This complex and partially unknown cellular machinery is responsible for cutting and splicing the RNA fragments encoded by genes in different ways, making it possible to obtain a wide variety of proteins from the same sequence. Its alteration is related to processes such as cancer, neurodegenerative processes or various rare diseases. According to the researchers, who publish the results in the journal Science, “by knowing exactly what each part does, we can find completely new angles to address a broad spectrum of diseases”.

Newborn genetic screening outperforms standard screening in detecting more serious diseases, preliminary study finds

Early results from a study of newborn screening methods show that DNA analysis detects many more serious preventable or treatable diseases than standard newborn screening. The study, published today in the journal JAMA, is one of the first large-scale studies in the world to use genome sequencing as a method of newborn screening and is the first to publish preliminary results. 

Nobel Prize in Medicine or Physiology awarded to Ambros and Ruvkun for the discovery of microRNAs and their role in gene regulation

The Karolinska Institute has awarded the Nobel Prize in Medicine or Physiology to Victor Ambros and Gary Ruvkun for the discovery of microRNAs, small RNA fragments that do not contain instructions for making proteins but instead participate in the regulation of gene expression. Their role is fundamental in processes such as cell differentiation, and their alteration can influence diseases like cancer.

Alterations in DNA packaging could explain a higher risk of leukemia in children with Down syndrome

Newborns with Down syndrome, as they grow, face a higher risk of developing leukemia compared to those without the syndrome. An international team has sequenced the genes of more than 1.1 million cells from fetuses with and without Down syndrome, and it has discovered that the extra chromosome 21 they have alters the way DNA is packaged inside cells. According to the authors, whose research is published in Nature, this difference affects the regulation of certain genes and may contribute to the development of leukemia.

AstraZeneca's new AI tool could predict more than a thousand diseases before diagnosis

A study published today in Nature Genetics examines AstraZeneca's new tool, MILTON, which uses artificial intelligence to detect biomarkers and predict diseases before they are diagnosed. According to this analysis, the tool could potentially predict over a thousand diseases and may even be more effective than the currently available polygenic risk scores.