Increased frequency of Repeat Expansion Disorders (REDs), genetic profile study on 80,000 people

NEWS - An international team of researchers led by Queen Mary University of London used new bioinformatics techniques to scan the genetic profiles of 80,000 people to understand the frequency of specific expansions of short, repetitive DNA sequences known as Repeat Expansion Disorders (REDs) in the general population.

The study, which explores the most common causes of inherited neurological conditions, suggests that REDs are up to three times more common than previously thought based on clinical observations or disease diagnoses alone. It also found that their frequency is common across different populations.

"This hugely important advance may suggest that Huntington's disease is almost three times more common than we thought. Instead, the presence of certain DNA repeats may not cause the disease in some people," said Arianna Tucci, from Queen Mary University.

It marks a major shift in the way we think about genetic testing, profiling and counselling. The findings were only possible because researchers studied whole genomes from the 100,000 Genomes Project at scale.

It is a paradigm shift from the traditional study of small families with a history of genetic conditions to the analysis of large populations of individuals. The researchers say they will study large groups of people who carry these genetic changes to help better understand what causes them to develop in certain individuals.

"These results are hugely important. They force us as a community of researchers, academics and clinicians to evaluate whether these DNA repeats address an unmet diagnostic need in rare neurological diseases which means that REDs investigations deserve closer attention now," said Sarah Tabrizi, from the UK Dementia Research Institute, UCL, London.

Original research

Ibañez, K., Jadhav, B., Zanovello, M. et al. Increased frequency of repeat expansion mutations across different populations. Nature Medicine (2024). https://doi.org/10.1038/s41591-024-03190-5, DOI:10.1038/s41591-024-03190-5

Dlium theDlium

Humpback whales (Megaptera novaeangliae) manufacture bubble-nets as tools to increase prey intake

NEWS - Humpback whales ( Megaptera novaeangliae ) create bubble net tools while foraging, consisting of internal tangential rings, and actively control the number of rings, their size, depth and horizontal spacing between the surrounding bubbles. These structural elements of the net increase prey intake sevenfold. Researchers have known that humpback whales create “bubble nets” for hunting, but the new report shows that the animals also manipulate them in a variety of ways to maximize catches. The behavior places humpbacks among the rare animals that make and use their own tools. “Many animals use tools to help them find food, but very few actually make or modify these tools themselves,” said Lars Bejder, director of the Marine Mammal Research Program (MMRP), University of Hawaii at Manoa. “Humpback whales in southeast Alaska create elaborate bubble nets to catch krill. They skillfully blow bubbles in patterns that form a web with internal rings. They actively control details such ...

Cempaki (Termitomyces microcarpus)

Cempaki ( Termitomyces microcarpus ) is a species of fungus in the Lyophyllaceae family. It grows wild in tropical Asian forests near termite nests. It is rarely reported in urban areas. It is edible and known for its deliciousness, high nutritional value, and difficulty in cultivating. In Indonesia, it is used as an alternative food ingredient. T. microcarpus is the smallest of the Termitomyces species, umbrella-shaped, plain white, measuring 5 cm tall and 2.5 cm wide. It grows in dense clusters on surfaces and forms a mutualistic relationship, requiring the metabolic activity of termites as a substrate for growth. This species is known for its deliciousness, rich in nutrients, and has potential bioactive properties, such as helping lower cholesterol and acting as a tonic. Currently, it is difficult to cultivate on a large scale, and people rely solely on wild harvests. This mushroom is highly favored for its savory, delicious flavor and soft, chewy texture. It is often stir-fried ...

Purhepecha oak (Quercus purhepecha), new species of shrub oak endemic to the state of Michoacán, Mexico

NEWS - In Mexico, several Quercus shrubby species are taxonomically very problematic including 8 taxa with similar characteristics. Now researchers report the purhepecha oak ( Quercus purhepecha De Luna-Bonilla, S. Valencia & Coombes sp. nov.) as a new tomentose shrubby white oak species with a distribution only in the Cuitzeo basin in the Trans-Mexican Volcanic Belt (TMVB). Quercus Linnaeus (1753) subdivided into 2 subgenera and 8 sections of which section Quercus (white oaks) has the widest distribution in the Americas, Asia and Europe. This section is very diverse in Mexico and Central America with phylogenomic evidence indicating recent and accelerated speciation in these regions. The number of shrubby oak species in Mexico is still uncertain. De Luna-Bonilla of the Universidad Nacional Autónoma de México and colleagues found at least 3 taxa in the TMVB, specifically Quercus frutex Trelease (1924), Quercus microphylla Née (1801) and Quercus repanda Bonpland (1809). In 2016,...

Dlium