In a recent study it was found that extra chromosome inherited in Down syndrome-chromosome 21-alters brain and body development.
Researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) have new evidence that points to a protein called sorting nexin 27, or SNX27.
Down Syndrome
Down Syndrome is a congenital disorder among children commonly born to older mothers. The condition is also known as 'Up syndrome' because of the cheerful persona of the Down children.
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SNX27 production is inhibited by a molecule encoded on chromosome 21.
The study shows that SNX27 is reduced in human Down syndrome brains.
The extra copy of chromosome 21 means a person with Down syndrome produces less SNX27 protein, which in turn disrupts brain function.
![Genetic Testing of Diseases]( "Genetic Testing of Diseases")
Genetic testing helps to confirm a genetic condition in an individual and involves q complex laboratory techniques
What's more, the researchers showed that restoring SNX27 in Down syndrome mice improves cognitive function and behavior.
"In the brain, SNX27 keeps certain receptors on the cell surface-receptors that are necessary for neurons to fire properly," Huaxi Xu, Ph.D., professor in Sanford-Burnham's Del E. Webb Neuroscience, Aging and Stem Cell Research Center and senior author of the study, said.
"So, in Down syndrome, we believe lack of SNX27 is at least partly to blame for developmental and cognitive defects," Xu said.
The study is published in the journal Nature Medicine.
Source: ANI
The extra copy of chromosome 21 means a person with Down syndrome produces less SNX27 protein, which in turn disrupts brain function.
Genetic Testing of Diseases
Genetic testing helps to confirm a genetic condition in an individual and involves q complex laboratory techniques
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What's more, the researchers showed that restoring SNX27 in Down syndrome mice improves cognitive function and behavior.
"In the brain, SNX27 keeps certain receptors on the cell surface-receptors that are necessary for neurons to fire properly," Huaxi Xu, Ph.D., professor in Sanford-Burnham's Del E. Webb Neuroscience, Aging and Stem Cell Research Center and senior author of the study, said.
"So, in Down syndrome, we believe lack of SNX27 is at least partly to blame for developmental and cognitive defects," Xu said.
The study is published in the journal Nature Medicine.
Source: ANI
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