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 ...

False nettle (Boehmeria cylindrica)

False nettle ( Boehmeria cylindrica ) is a species of plant in the Urticaceae family, a herb or small shrub, up to 160 cm tall, usually monoecious but rarely dioecious. The leaves are paired or alternate, and the inflorescence is a spikelet with a cluster of small bracts at the tip. B. cylindrica generally grows to a height of 50-100 cm. Spine-like hairs form in the leaf axils. The leaves are oval and up to 10 cm long and 4 cm wide. The flowers are green or greenish-white and emerge from the upper leaf axils. Male and female flowers usually grow on separate plants. Male flowers are more numerous among the spikes in clusters. Female flowers are less evenly distributed along the spikes. The small, oval seeds are covered with small, hook-like hairs. Ripe seeds are dark brown. The inflorescence resembles a spike and is up to 3 cm long. This species can be found in moist to mesic deciduous forest habitats, growing abundantly along streambanks, floodplains, and lowlands. B. cylindrica is ...

Devil's backbone (Euphorbia tithymaloides)

Pokok lipan or devil's-backbone or redbird flower or christmas candle or Pedilanthus tithymaloides ( Euphorbia tithymaloides ) are plant species in Euphorbiaceae, upright, evergreen, gummy shrubs, growing in tropical and subtropical regions. E. tithymaloides likes sandy soils especially with high concentrations of boron, copper, iron, manganese, molybdenum and zinc. This bush grows to 2.4 m high and 61 cm wide. Simple angiosperm leaves, arranged opposite to the stem where each leaf is sessile with a length of 3.6-7.6 cm. The stem has the tip of a handle that supports a group of flowers that are not scented. Bifid crown and ovoid. The involucral bracts are bright red, irregular in shape and length from 1.1 to 1.3 mm. Hairy male and female pedicels. Seed pods are 7.6 mm long, 8.9 mm wide and ovate with clipped ends. Devil's-backbone generally blooms in mid-spring in the subtropical region and in the dry season in the tropics. Pollination is carried out by ants and birds. ...

Dlium