Recent studies have suggested that the major functional defect in a mouse model of DS may be an imbalance between excitation and inhibition brain signalling. This kind of imbalance is often seen to result in epilepsy. In a study by US researchers, the role of two DS genes was investigated. Here they found that by restoring the level of expression of these two genes to normal in the DS mouse, they could then restore the signalling imbalance. However, restoring the level of gene expression occurred from egg fertilisation and occurred throughout embryonic development, meaning that human gene therapy in young or adult individuals with DS may not produce an effect as great. Also, despite there being obvious brain changes in individuals with DS, there is substantial lack of evidence that the same brain signalling imbalance is occurring, as seen in the mouse model.
Additional commentary by the journal was made here
Randal
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