AI Article Synopsis
- * Symptoms include physical growth delays and intellectual disabilities, with key features such as microcephaly due to altered brain development.
- * Recent research on mouse models has highlighted the importance of the DYRK1A gene on chromosome 21, showing its influence on brain cell development and how its increased dosage may contribute to DS symptoms.
Article Abstract
Down syndrome (DS) also known as Trisomy 21 is a genetic disorder that occurs in ∼1 in 800 live births. The disorder is caused by the triplication of all or part of human chromosome 21 and therefore, is thought to arise from the increased dosage of genes found within chromosome 21. The manifestations of the disease include among others physical growth delays and intellectual disability. A prominent anatomical feature of DS is the microcephaly that results from altered brain development. Recent studies using mouse models of DS have shed new light on DYRK1A (dual-specificity tyrosine-phosphorylation-regulated kinase 1A), a gene located on human chromosome 21 that plays a critical role in neocortical development. The present review summarizes effects of the increased dosage of DYRK1A on the proliferative, neurogenic and astrogliogenic potentials of cortical neural progenitor cells, and relates these findings to the clinical manifestations of the disease.
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| http://dx.doi.org/10.1016/j.neures.2018.09.007 | DOI Listing |
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