World first: researchers discover genes behind neural developmental disorders!
World first: researchers discover genes behind neural developmental disorders!
neuronal developmental disorders worldwide represent a significant challenge for healthcare and affect millions of people. While genetic causes are known for many of these diseases, the causes remain unclear in around half of the cases. An international research team led by Prof. Dr. Christel Depienne from the University of Duisburg-Essen has now identified mutations in small nuclear RNAs (Snrnas), which act as a genetic cause of these disorders. The results of this study were published in Nature Genetics and are based on an analysis of over 23,000 patients with rare diseases.
The study shows that about 0.5 % of cases have mutations in SNRNA gen RNU4-2 that lead to Renu syndrome. In addition, 145 new cases with (probably) illness-causing variants in RNU4-2 were identified. Furthermore, 21 patients showed changes in related snrna genes such as RNU5B-1 and RNU5A-1, which are also associated with neuronal developmental disorders.
genetic discoveries and their meaning
In a further study by the University Medical Center Leipzig, two genes were identified, the mutations of which cause neurological developmental disorders. This finds, published in renowned specialist journals, encompass a case of a child with early on-on epilepsy and developmental disorders, in which two genetic changes in the CHKA gene were demonstrated. The mutations in the CHKA gene influence the enzyme cascade, which is responsible for the construction of membrane modules.A second case concerned a young patient with a similar developmental disorder in which a mutation in the ATP2B1 gene was discovered as a possible cause. Mutations in this gene affect the pumping performance of a calcicia pump, which is crucial for neural functions. Such research results not only provide valuable information for diagnostics, but also help to develop therapeutic approaches.
new knowledge of rare diseases
In addition to the genetic research on known mutations, another study leads to the discovery of the ESAM gene, which has not yet been related to rare neurological diseases. This research included an analysis of 13 people, including four fetuses, from eight non -related families in different countries. Those affected showed symptoms such as global development delay, intellectual disability and neurological abnormalities such as epilepsy and spasticity.
The ESAM gene encodes for a cell cell connection protein that is significant for maintaining the blood-brain barrier. The discovery of these bi-allelic variants could enable new classification of these diseases as "Tightjunctionopathies", which would further deepen the understanding of molecular mechanisms behind neurological developmental disorders. The use of the latest techniques such as Next Generation Sequencing (NGS), full-sex and all-genome sequencing has the potential to significantly improve diagnostic data in neurological developmental disorders.
The combination of these studies and the cooperation of international research networks show how important genetic research is in the field of neurological developmental disorders. The findings help to improve the diagnostic methods and to explore potential therapeutic ways that could benefit many families affected. This multidisciplinary approach is crucial to optimize the medical care of patients with rare and complex diseases.
| Details | |
|---|---|
| Ort | Duisburg, Deutschland |
| Quellen | |