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DYRK1A gene may be 1 of most influential factors in Down syndrome
Date:3/1/2010

b>Communication between cholinergic neurones the key

There is evidence that the superexpression of the DYRK1A gene may alter the transcription of the DNA (the process that synthesises proteins from DNA). Mr Azkona confirmed the evidence with an experiment with a transgenic mouse which had superexpression. This would directly affect cholinergic neurones and cause damage typical of Down's syndrome with memory and the learning process.

Thus, in the opinion of Mr Azkona, normalising the dose of the DYRK1A gene may be one of the most promising therapeutic strategies in the study of Down's syndrome. Likewise, in his research he has underlined the efficacy of the tapping test, which measures psychomotricity and which was used at the beginning of the process. According to Mr. Azkona, it has been valuable in determining the characteristics of the changes that occur in the visual-spatial memory and of the progress of these changes in persons suffering from the syndrome as they age. This is why he believes that it can also act to detect early neurodegenerative changes and the possible effects of therapy.


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Elhuyar Fundazioa
Source:Eurekalert

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