Scientists have discovered a new dangerous genetic disease

This rare genetic disorder was found to be caused by variations in the protein-coding gene Glutamate Ionotropic Receptor AMPA Type Subunit 1.

New genetic disease slows brain development in children.

Scientists have discovered a new genetic disorder that causes some children’s brains to grow abnormally and delay intellectual development.

Most people with this disorder, which is new because it has no name, struggle with significant learning difficulties that negatively impact their quality of life.

According to an international team of researchers from the Universities of Portsmouth, Southampton and Copenhagen, changes in the protein-coding gene known as the glutamate ionotropic receptor AMPA-type subunit (GRIA1) were the main cause of this rare genetic disorder.

Discovery of the variant will help doctors develop targeted treatments to help patients and their families, and pave the way for screening and prenatal diagnosis.

The GRIA1 gene facilitates the movement of electrical impulses within the brain. The brain’s ability to remember information can be hindered if this process is hindered or its efficiency reduced.

To show that GRIA1 mutations are the underlying cause of the disease that alters behavior, a research team of frog geneticists, biochemists, and clinical geneticists used shrews in which variations in the human gene had been replicated through gene editing. Biochemical analysis of variants was also performed on frog oocytes.

The results have been announced American Journal of Human Genetics.

Professor Matt Gill, who heads the Laboratory of Epigenetics and Developmental Biology Research Group, is an author of the study.[{” attribute=””>University of Portsmouth, said: “Next generation

“The resulting data allow us to support our colleagues in providing the more timely, accurate diagnosis that patients and their families so desperately need.”

Co-author Dr. Annie Goodwin, a Research Fellow at the University of Portsmouth who performed much of the study, said: “This was a transformational piece of work for us; the ability to analyze human-like behaviors in tadpoles with sufficient

Professor Guille said that previously, while studies connecting a gene and a disease were mainly performed in mice; several labs, including his own at the University of Portsmouth, have recently shown that experiments in tadpoles can also provide very strong evidence about the function of variant human genes. The process of re-creating some gene variants in tadpoles is straightforward and can be done in as little as three days.

Professor Guille added: “We are currently extending and improving our technology in a program funded by the Medical Research Council; this is making it applicable to the wider range of disease-related DNA changes provided to us by our clinical collaborators.

“If the clinical researchers find the information sufficiently useful, then we will continue to work together to scale up the pipeline of gene function analysis so it can be used to direct effective interventions for a significant number of patients.”

Reference: “Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome” by Vardha Ismail, Linda G. Zachariassen, Annie Godwin, Mane Sahakian, Sian Ellard, Karen L. Stals, Emma Baple, Kate Tatton Brown, Nicola Foulds, Gabrielle Wheway, Matthew O. Parker, Signe M. Lyngby, Miriam G. Pedersen, Julie Desir, Allan Bayat, Maria Musgaard, Matthew Guille, Anders S. Kristensen and Diana Baralle, 7 June 2022, American Journal of Human Genetics.
DOI: 10.1016/j.ajhg.2022.05.009

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