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Gene’s and Down Syndrome

Submitted by on 29 October, 2022 – 4:32 am

Research in recent years about Down syndrome has focused on the gene for DYRK1A. The superexpression of this gene affects the transmission in neurons, according to Garikoitz Azkona at the Center for Genomic Regulation in Barcelona.

In his doctoral thesis, The molecular basis of neuropathology in Down syndrome: the role of DYRK1A, Azkona argues that failure in the transmission of neurons could be behind the problem that people with Down syndrome are related to memory visual-spatial.

People with Down syndrome tend to have big problems with memory, this is just one characteristic that distinguishes them from other people. Particularly notable is the limited capacity they have to keep the information received orally, but also on visual-spatial memory must be taken into account. This topic has been little attention to date and Azkona decided to take the challenge. From this differential phenomenon that has gradually unravel the problem until he came to the DYRK1A gene.

To start your research, evaluated psychomotor Azkona of people with Down syndrome and its progress as I got older, with a test known as the tapping test. As expected, it was found that in the short term, people with Down syndrome have poorer visual-spatial memory, but also concluded that taking longer to make the tests not having the syndrome Down and patients not to use as an effective cognitive strategies that do not suffer.

It is believed that the root of this problem lies in the central part of the brain, specifically in the transmission between the hippocampus and a specific part of the brain. It appears that cholinergic neurons, which must ensure that transmission, are disrupted in people with Down syndrome, in addition to deterioration with age. The DYRK1A gene is thought to have much to do with this and Azkona based his hypothesis on this for their research work.

The communication between the key cholinergic neurons

There is evidence that superexpression the DYRK1A gene may alter DNA transcription (the process that synthesizes proteins from DNA). Azkona tests confirmed by an experiment with a transgenic mouse that had superexpression. This directly affects cholinergic neurons and cause damage typical of Down syndrome with memory and learning process.

Thus, in view Azkona, standardization of dosage of DYRK1A gene can be one of the most promising therapeutic strategies in the study of Down syndrome. Also, his research has highlighted the effectiveness of the recording test, which measures psychomotor, and was used at the beginning of the process. According to Mr. Azkona, has been valuable in determining the characteristics of the changes that occur in visual-spatial memory and the progress of these changes on people with the syndrome of age. Therefore believes that it can also act for early neurodegenerative changes and possible effects of therapy.

Garikoitz Azkona Mendoza (Donostia-San Sebastian, 1977) graduated in Veterinary Science. He wrote his dissertation under the direction of José Vicente Lafuente, Mara Dierssen, Department of Neurosciences, Faculty of Medicine and Dentistry (University of the Basque Country). He is currently working at the Center for Genomic Regulation in Barcelona, and also expecting to do post-doctoral fellow with the team Dr. Cornelius Gross at the European Molecular Biology Laboratory in Monterotondo (Rome). In developing his thesis, he collaborated with the Group of neurobehavioral phenotyping mouse models of disease at the Center for Genomic Regulation in Barcelona. It also carried out some experiments in the Department of Biochemistry at the Hebrew University of Jerusalem.

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