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

Research undertaken in recent years on Down's syndrome has focused on the DYRK1A gene. The superexpression of this gene affects transmission in the neurones, according to Mr Garikoitz Azkona. In his PhD thesis, The molecular bases of neuropathology in Down's syndrome: the role of DYRK1A, Mr Azkona argues that this failure in neurone transmission could be behind the problem that persons with Down's syndrome have regarding visual-spatial memory.

Persons with Down's syndrome usually have great problems with memory; this being precisely one of the characteristics which differentiates them from other people. Particularly notable is the poor capacity they have for retaining information received orally, but also that concerning visual-spatial memory should be taken into account. This topic has hardly been dealt with to date and Mr Azkona decided to take up the challenge. Starting with this differential phenomenon, he has little by little unravelled the problem until he came up with the DYRK1A gene.

To begin his research, Mr Azkona evaluated the psychomotricity of persons with Down's syndrome as well as their progress as they got older, using a test known as the tapping test. As was expected, it was proven that, in the short term, persons with Down's syndrome have poorer visual-spatial memory; he also concluded that they take longer in doing the tests than those not having the syndrome and sufferers do not use as effective cognitive strategies as non-sufferers.

It is believed that the root of this problem is in the central part of the brain; more concretely, in the transmission between the hippocampus and a specific part of the brain. It would seem that cholinergic neurones, which should guarantee this transmission, undergo alterations in those persons with Down's syndrome, besides deteriorating with age. The DYRK1A gene is thought to have much to do with this and Mr Azkona based his hypothesis on this for his research work.

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Contact: Amaia Portugal
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Elhuyar Fundazioa
Source:Eurekalert

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