Scientists Discover Terrible New Genetic Disease
This uncommon genetic disease was found to be caused by variations in the gene encoding the Glutamate Ionotropic Receptor AMPA Type 1 Subunit protein.
A new genetic disease slows children’s brain development.
A new genetic disease that causes the brains of some children to grow abnormally and delay intellectual development has been discovered by scientists.
Most people with this disease, which is still so new that it doesn’t have a name, struggle with significant learning challenges that negatively impact their quality of life.
Changes in the gene coding for a protein known as Glutamate Ionotropic Receptor AMPA Type Subunit 1 (GRIA1) is the underlying cause of this unusual genetic disorder, according to an international team of researchers from the universities of Portsmouth, Southampton and Copenhagen.
Variant discovery will assist clinicians in developing focused treatments to assist patients and their families and will pave the way for prenatal screening and diagnosis.
The GRIA1 gene facilitates the movement of electrical impulses within the brain. The brain’s ability to remember information may be hampered if this process is impaired or if it is perceived as less efficient.
To demonstrate that GRIA1 mutations are the underlying cause of behavior-altering disease, the research team—consisting of frog geneticists, biochemists, and clinical geneticists—used tadpoles in which variations in human genes are replicated through gene editing. Biochemical analysis of variance was also performed on frog oocytes.
The results were published in American Journal of Human Genetics.
Study co-author Professor Matt Guille, who leads the laboratory in the Epigenetics and Developmental Biology research group at
” data-gt-translate-attributes=”[{” 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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