Scientists identify a new hereditary disorder that retards children's brain development.
Scientists have discovered a new hereditary disorder that causes aberrant brain growth in certain youngsters, resulting in retarded intellectual development.
The majority of individuals with the ailment, which is so new that it does not yet have a name, suffer from life-altering learning impairments.
An multinational team of scientists from the universities of Portsmouth, Southampton, and Copenhagen discovered that mutations in the Glutamate Ionotropic Receptor AMPA Type Subunit 1 (GRIA1) protein-coding gene were responsible for this uncommon genetic disorder.
Now that the mutation has been found, it will be easier for physicians to develop tailored therapies to aid patients and their families, and screening and prenatal diagnosis will be possible.
The GRIA1 gene facilitates the spread of electrical impulses throughout the brain. However, if this process is disrupted or rendered less efficient, the brain's ability to remember knowledge may be diminished.
The study team, composed of frog geneticists, biochemists, and clinical geneticists, employed tadpoles in which human gene variations were duplicated by gene editing to demonstrate that GRIA1 mutations are the root cause of the behavior-altering disorder. On frog oocytes, the biochemical analysis of the variations was also done.
Professor Matt Guille, who directs a laboratory at the University of Portsmouth's Epigenetics and Developmental Biology research department, states that "next generation DNA sequencing is revolutionising our capacity to establish new diagnoses and identify novel genetic origins of uncommon illnesses."
"Linking a mutation detected in a patient's genome to their ailment poses the greatest challenge in diagnosing these individuals. Introducing the suspicious genetic mutation into tadpoles enables us to determine if it produces the same disease in people."
"The generated data enable us to assist our colleagues in giving patients and their families with the quick and correct diagnosis they so sorely need."
Co-author Dr. Annie Goodwin, a Research Fellow at the University of Portsmouth who conducted a significant portion of the research, states: "This was a transformative piece of work for us; the ability to analyse human-like behaviours in tadpoles with sufficient accuracy to detect genetic disease-linked changes allows us to assist in the identification of a vast array of diseases. Given that so many neurodevelopmental illnesses are now undetected, this is especially crucial."
Professor Diana Baralle, Professor of Genomic Medicine and Associate Dean (Research) in the Faculty of Medicine at the University of Southampton, added, "The discovery of these new causes for genetic disorders brings an end to our patients' diagnostic odyssey, which has been made possible by collaborative interdisciplinary work across universities."
One in seventeen individuals will get a rare illness at some point in their life. The majority of these uncommon disorders have a genetic basis and often afflict youngsters, but identifying the gene mutation that causes a disease is a formidable task.
Several laboratories, including his own at the University of Portsmouth, have lately shown that tadpole tests may give extremely solid information about the function of mutant human genes. The procedure of re-creating certain gene variations in tadpoles is simple and may be completed within three days.
Professor Guille continued, "We are now expanding and enhancing our technique as part of a Medical Research Council-funded study; this makes it suitable to a broader spectrum of disease-related DNA alterations reported by our clinical colleagues."
If clinical researchers find the information sufficiently valuable, we will continue to collaborate to expand the gene function analysis pipeline so that it may be utilised to steer appropriate therapies for a large number of patients.
Source:
https://medicalxpress.com/news/2022-06-scientists-genetic-disease-brain-children.html
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