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  • Researchers discover how to stop breath holding in girls with Rett Syndrome

    Rett Syndrome is a serious neurodevelopmental disorder that mostly affects girls and is caused by an altered gene in the X chromosome. Among the many of Rett Syndrome symptoms is breath holding, which can cause low brain oxygen levels and worsen an already debilitating disease.

    Yesterday, it was broadcast in the news that researchers from Bristol’s School of Physiology & Pharmacology announced that they have successfully discovered ways to stop breath holding episodes in people who are affected by Rett Syndrome. Their claim is that, through the use of existing drugs, they can alter the body’s levels of γ-Aminobutyric acid (GABA), which is a neurotransmitter in the nervous system.

    Augmenting GABA markedly improves the respiratory phenotype. In addition, a serotonin 1a receptor agonist that depresses expiratory neuron activity also reduces apnea, corrects the irregular breathing pattern, and prolongs survival in MeCP2 null males. Combining a GABA reuptake blocker with a serotonin 1a agonist in heterozygous females completely corrects their respiratory defects. (pnas.org)

    The announcement could not come any sooner for many parents who have to watch their children uncontrollably hold their breath as they can do little to stop it. The availability of the drug used to stop breath holding in people with Rett Syndrome should become available for use in these girls almost immediately as the drugs already exist and are prescribable for other conditions.

    Sources: pnas.org

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    Researchers discover how to stop breath holding in girls with Rett Syndrome4.657

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