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Showing posts with the label Down Syndrome

Betaine (TMG) and Gene Therapy as potential alternatives to Bumetanide Treatment in Autism?

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Betaine (also known as TMG, or trimethylglycine)  is a methyl derivative of glycine, first isolated from sugar beet and hence its name. Today’s post was prompted by our reader, and Covid home-school instructor, AJ.  He raised the question of whether betaine can be used like Bumetanide to normalize chloride levels in neurons. I am combing this idea with news from Genoa in Italy, where they have developed gene therapy as an alternative to Bumetanide and in their words :- “This sets the stage for the development of a gene therapy approach to overcome the shortcomings of bumetanide treatment.” The interesting thing is that neither of these ideas come from autism research.  The idea to use Betaine was stumbled upon and was then written up in a Norwegian case study about Creatine transporter deficiency.  The Italians are trying to improve cognition in brain disorders and their model of choice was Down syndrome.   As we have seen time and again, elevated chloride...

GABRA5 - Too much, or too little in Autism and Down Syndrome?

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  It is easy to get things the wrong way round. This applies to science and to some people getting dressed   Today’s post was prompted by a reader updating me about Roche’s autism drug RO7017773, which targets the alpha 5 sub-unit of GABA A receptors, encoded by the gene GABRA5. Enrollment opens in phase II study of RO-7017773 for autism spectrum disorder A 12-Week Placebo-Controlled Study to Investigate the Efficacy, Safety, and Tolerability of RO7017773 in Participants Aged 15-45 Years With Autism Spectrum Disorder (ASD)   Some people with severe autism, or just plain old ID/MR, which has gone out of fashion as a diagnosis these days, struggle to dress themselves because they do not notice what is inside out, or back to front.   I recall reading a few years ago about one autism parent who started a clothing company to get round this problem.   ADAPTIVE CLOTHING with no front/back and reversible so cannot be inside out.   I must say that writing...