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

Limestone beads (Jacquemontia paniculata)

Limestone beads ( Jacquemontia paniculata ) is a species of plant in the Convolvulaceae. It is a herbaceous, twining climbing plant with cylindrical, branched, green stems. It grows in shrubs, teak forest floors, agricultural lands, roadsides, and abandoned areas. J. paniculata has arrow-shaped, green leaves with a central main vein and numerous pinnate minor veins. The leaves are up to 9 cm long, 7 cm wide, and have stalks up to 5 cm long. The flowers are star-shaped, about 1 cm in diameter, and bluish-white. TAXON Kingdom: Plantae Phylum: Tracheophyta Subphylum: Angiospermae Class: Magnoliopsida Order: Solanales Family: Convolvulaceae Subfamily: Dichondroideae Tribe: Jacquemontieae Genus: Jacquemontia Choisy in Mém. Soc. Phys. Genève 6: 476 (1833 publ. 1834) Species: Jacquemontia paniculata (Burm.f.) Hallier f. in Bot. Jahrb. Syst. 18: 95 (1893) Variety: Jacquemontia paniculata var. grandiflora Ooststr., Jacquemontia paniculata var. lanceolata S.H.Huang, Jacquemontia paniculata v...

Kemadih (Fagraea ceilanica)

Kemadih ( Fagraea ceilanica ) is a species of plant in the Gentianaceae family. It grows as a climber and covers host trees. It is a perennial, multi-branched, hardwood plant with hard, brown bark and dark green young bark. F. ceilanica has thick leaves, 15 cm long and 8 cm wide. A central vein is linear, with a pointed tip and base. The upper surface is dark green and the lower surface is bright green. The petiole is 3 cm long. The flowers are fan-shaped with 5 inflorescences. The base is narrow, whitish-yellow or bright green, and 8 cm wide. Four inflorescences with brownish-white tips and one inflorescence with a green tip grow in the center. The fruit is green, 3.5 cm long, and the stalk is 2 cm long. TAXON Kingdom: Plantae Phylum: Tracheophyta Subphylum: Angiospermae Class: Magnoliopsida Order: Gentianales Family: Gentianaceae Tribe: Potalieae Subtribe: Potaliinae Genus: Fagraea Thunb. in Kongl. Vetensk. Acad. Nya Handl. 3: 125 (1782) Species: Fagraea ceilanica Thunb. in Kong...

Kunu buti (Mesosphaerum suaveolens)

Kunu buti ( Mesosphaerum suaveolens ) is a species of plant in the Lamiaceae family. It is an erect, herbaceous annual, growing up to 1.5 meters tall. Its cylindrical, rough, brown or green stem is hairy and white. It grows on forest floors, bushes, agricultural fields, and roadsides. Its roots are fibrous and brownish-yellow. M. suaveolens has single, opposite leaves, stalks 2-5 cm long and hairy. The leaf blades are green, hairy, oval, with pointed tips, blunt bases, serrated edges, up to 6 cm long, up to 5 cm wide, and pinnate veins. The flowers are compound, axillary, in clusters, perfect, and bisexual. The petals are attached, forming a tube, each tip elongated like a spine, soft, 3-10 mm long, and green. The corolla is attached, asymmetrically detached, 1-2 cm long, and purple. The fruit is single, hard, capsule-shaped, hairy on the surface, and green or brown in color. The seeds are round, small and blackish brown in color. TAXON Kingdom: Plantae Phylum: Tracheophyta Subphyl...

Dlium